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: PA916037577

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102805

ClinVar RCV Id: RCV000089056 RCV000688713

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Arg241Leu	CA229716 NM_001354304.2:c.722G>T