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: PA2826625971

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 819322

ClinVar RCV Id: RCV001011779 RCV001862781

ClinVar Variation Id: 1438080

ClinVar RCV Id: RCV001948888 RCV004010948

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268421.1:p.Met369Leu	CA346746144 NM_001281492.2:c.1105A>C CA346746146 NM_001281492.2:c.1105A>T