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: PA2826626421

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074426

ClinVar RCV Id: RCV004013960

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268421.1:p.Lys473Asn	CA346749377 NM_001281492.2:c.1419G>C CA346749378 NM_001281492.2:c.1419G>T