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: PA916037798

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 628

ClinVar RCV Id: RCV000000660 RCV000078502 RCV000150077 RCV000850463 RCV001280537 RCV003390629 RCV003258654

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Thr380Met	CA114369 NM_001354304.2:c.1139C>T