Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2826626611

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 647393

ClinVar RCV Id: RCV000801897 RCV003362950

ClinVar Variation Id: 1497615

ClinVar RCV Id: RCV002019478 RCV002407265

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268421.1:p.Lys516Asn	CA346750442 NM_001281492.2:c.1548G>C CA346750445 NM_001281492.2:c.1548G>T