Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2826637399

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 421360

ClinVar RCV Id: RCV000478043 RCV002323830 RCV002526597

ClinVar Variation Id: 479972

ClinVar RCV Id: RCV000565899 RCV001858114 RCV003459294

ClinVar Variation Id: 1729541

ClinVar RCV Id: RCV002324974

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268423.1:p.Phe786Leu	CA16617695 NM_001281494.2:c.2356T>C CA346758166 NM_001281494.2:c.2358C>A CA346758170 NM_001281494.2:c.2358C>G CA2580067019 NM_001281494.2:c.2356_2358delinsCTT