Allele Registry

Canonical Allele Identifier: PA287424

Gene: MSH2 HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score -5.0015638563

Linked Data - NCBI & NCI

ClinVar Allele:

133093

ClinVar RCV:

RCV000115512

RCV000205979

RCV000212611

RCV000411841

RCV000708836

RCV001194001

RCV001355718

ClinVar Variation:

127636

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Pro616Arg	CA019432 NM_000251.3:c.1847C>G