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: PA106189

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102856

ClinVar RCV Id: RCV000089117 RCV000664652

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Met276Val	CA229794 NM_000277.3:c.826A>G