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: PA2825137976

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932262

ClinVar RCV Id: RCV001199992

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000268.1:p.Arg169Ser	CA16020803 NM_000277.3:c.505C>A