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: PA916037376

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102610

ClinVar RCV Id: RCV000088852 RCV001543635

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Glu56Asp	CA229459 NM_001354304.2:c.168G>T CA386302277 NM_001354304.2:c.168G>C