ClinGen Allele Registry
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Canonical Allele Identifier:
PA658803879
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.9125552812
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000629696
ClinVar Variation:
525603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ala230Val
CA346731902
NM_000251.3:c.689C>T