Allele Registry

Canonical Allele Identifier: PA186347

Gene: MSH2 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -5.1334182163

Linked Data - NCBI & NCI

ClinVar Allele:

181960

ClinVar RCV:

RCV000162476

RCV000167995

RCV000409730

RCV000480972

RCV000708834

RCV000781560

RCV004535054

ClinVar Variation:

183758

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Asp597Ala	CA019316 NM_000251.3:c.1790A>C