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: PA916037818

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102548

ClinVar RCV Id: RCV000088782 RCV002509213

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala395Asp	CA229374 NM_001354304.2:c.1184C>A