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: PA915966660

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 650122

ClinVar RCV Id: RCV000805216 RCV001766675

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Asp282His	CA040894 NM_000251.3:c.844G>C