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: PA334710

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188356

ClinVar RCV Id: RCV000168388 RCV000508172 RCV000568410 RCV003468832 RCV003995625

ClinVar Variation Id: 408521

ClinVar RCV Id: RCV000470314 RCV000491232 RCV003329284 RCV003153620

ClinVar Variation Id: 570175

ClinVar RCV Id: RCV000690977 RCV002397393

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Phe58Leu	CA019166 NM_000251.3:c.174C>A CA030766 NM_000251.3:c.174C>G CA346728992 NM_000251.3:c.172T>C