This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000446658.1:p.His107Arg
ENST00000546844.1:c.[320A>G;324G>A]

ENST00000546844.1:c.[320A>G;324_329delins...

ENST00000546844.1:c.[320A>G;325C>T;327T>A...

ENST00000546844.1:c.[320A>G;325C>T;327T>G...

ENST00000546844.1:c.[320A>G;327T>A]

ENST00000546844.1:c.[320A>G;327T>C]

ENST00000546844.1:c.[320A>G;327T>G]

ENST00000546844.1:c.[320A>G;327T=]

ENST00000546844.1:c.[320A>G;329C=]

ENST00000546844.1:c.[320A>G;329_330delins...

ENST00000546844.1:c.[320A>G;330A=]

ENST00000546844.1:c.[320A>G;330A>C]

ENST00000546844.1:c.[320A>G;330A>G]

ENST00000546844.1:c.[320A>G;330A>T]

ENST00000546844.1:c.[320A>G;331C>A]

ENST00000546844.1:c.[320A>G;331C=]

ENST00000546844.1:c.[320A>G;332G=]

ENST00000546844.1:c.[320A>G;333A>C]

ENST00000546844.1:c.[320A>G;333A>G]

ENST00000546844.1:c.[320A>G;333A>T]

ENST00000546844.1:c.[320A>G;334G=]

ENST00000546844.1:c.[320A>G;336T>C]

ENST00000546844.1:c.[320A>G;337A=]

ENST00000546844.1:c.[320A>G;339G>A]

ENST00000546844.1:c.[320A>G;342G>A]

ENST00000546844.1:c.[320A>G;342_345delins...

ENST00000546844.1:c.[320A>G;343A=]

ENST00000546844.1:c.[320A>G;344_348delins...

ENST00000546844.1:c.[320A>G;345A=]

ENST00000546844.1:c.[320A>G;345A>G]

ENST00000546844.1:c.[320A>G;346_348delins...

ENST00000546844.1:c.[320A>G;348C>T]