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: PA2826629185

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 455307

ClinVar RCV Id: RCV000547026 RCV001186971

ClinVar Variation Id: 525638

ClinVar RCV Id: RCV000629765 RCV003237961 RCV002377344

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268421.1:p.Asn1177Lys	CA346761460 NM_001281492.2:c.3531T>G CA346761461 NM_001281492.2:c.3531T>A