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: PA229796

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102857

ClinVar RCV Id: RCV000089118 RCV000758121

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Met276Lys	CA229795 NM_000277.3:c.827T>A