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: PA2826446807

Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 578182

ClinVar RCV Id: RCV000701115

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001244894.1:p.Pro733Leu