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: PA916037421

Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 627

ClinVar RCV Id: RCV000000659 RCV000088892 RCV000675074 RCV003323344 RCV003914793

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341233.1:p.Leu98Ser	CA114368 NM_001354304.2:c.293T>C