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: PA645384224

Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 418902

ClinVar RCV Id: RCV000485755 RCV002455915 RCV002525781

ClinVar Variation Id: 630921

ClinVar RCV Id: RCV000776942

ClinVar Variation Id: 2587369

ClinVar RCV Id: RCV003350678

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000170.1:p.Phe1191Leu	CA071410 NM_000179.3:c.3571T>C CA346760491 NM_000179.3:c.3573T>A CA346760493 NM_000179.3:c.3573T>G