Allele Registry

Canonical Allele Identifier: PA339028

Gene: MSH2 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -5.7004641695

Linked Data - NCBI & NCI

ClinVar Allele:

212198

ClinVar RCV:

RCV000199994

RCV000410314

RCV000485278

RCV000490871

RCV000767061

RCV003997017

ClinVar Variation:

216348

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Gly683Val	CA339026 NM_000251.3:c.2048G>T