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: PA916037423

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 553851

ClinVar RCV Id: RCV000669377

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Asp101Asn	CA16020762 NM_001354304.2:c.301G>A