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: PA229310

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102497

ClinVar RCV Id: RCV000088728 RCV002514541

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Gly352Cys	CA229309 NM_000277.3:c.1054G>T