Allele Registry

Canonical Allele Identifier: PA334131

Gene: MSH2 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -4.5080757229

Linked Data - NCBI & NCI

ClinVar Allele:

185980

ClinVar RCV:

RCV000168008

RCV000236761

RCV000568153

RCV000662371

RCV001553594

RCV003995602

ClinVar Variation:

188133

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Glu357Ala	CA017027 NM_000251.3:c.1070A>C