Allele Registry

Canonical Allele Identifier: PA192214

Gene: MSH2 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -3.9864482195

Linked Data - NCBI & NCI

ClinVar Allele:

181900

ClinVar RCV:

RCV000164978

RCV000200570

RCV000663139

RCV000781570

RCV001589031

RCV003995379

ClinVar Variation:

185536

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Ala54Ser	CA018738 NM_000251.3:c.160G>T