Allele Registry

Canonical Allele Identifier: PA105012

Gene: PAH HGNC NCBI

ClinVar Allele:

108331

ClinVar RCV:

RCV000088834

RCV000632880

RCV003407485

ClinVar Variation:

102595

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala447Asp	CA229437 NM_000277.3:c.1340C>A