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: PA916037714

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102902

ClinVar RCV Id: RCV000089166 RCV000669990

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Ala313Thr	CA229859 NM_001354304.2:c.937G>A