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: PA2573206111

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1494029

ClinVar RCV Id: RCV001986924 RCV003402026

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.His170Pro	CA16020805 NM_001354304.2:c.509A>C