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: PA2499231122

Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175300

ClinVar RCV Id: RCV001530377

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000313.2:p.Ala252Pro	CA364134948 NM_000322.5:c.754G>C