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: PA2825087588

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 919753

ClinVar RCV Id: RCV001178071

ClinVar Variation Id: 3230488

ClinVar RCV Id: RCV004520639

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000170.1:p.Leu337Phe	CA346741258 NM_000179.3:c.1011G>C CA346741261 NM_000179.3:c.1011G>T