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: PA119205

Gene: RDH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 8007

ClinVar RCV Id: RCV000008471

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_002896.2:p.Val177Gly