Allele Registry

Canonical Allele Identifier: PA294501

Gene: MSH2 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -0.7436067265

Linked Data - NCBI & NCI

ClinVar Allele:

96044

ClinVar RCV:

RCV000132166

RCV000212599

RCV000411777

RCV000765665

RCV000781558

RCV001083003

RCV001356152

RCV001798264

ClinVar Variation:

90569

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Arg406Gln	CA017527 NM_000251.3:c.1217G>A