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: PA104863

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102831

ClinVar RCV Id: RCV000089088 RCV000411173

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Ala259Thr	CA229755 NM_000277.3:c.775G>A