Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA105563

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 580

ClinVar RCV Id: RCV000000610 RCV000078532 RCV003162201 RCV002512608

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Glu280Lys	CA251525 NM_000277.3:c.838G>A