ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094889
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.3959849783
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076362
RCV001723648
RCV003452881
ClinVar Variation:
90860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly674Arg
CA019825
NM_000251.3:c.2020G>C