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: PA2826625952

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 483792

ClinVar RCV Id: RCV000570527 RCV000816280 RCV003465239 RCV004530607

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268421.1:p.Ala364Val	CA346746046 NM_001281492.2:c.1091C>T