ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357783
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.5559701245
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210095
RCV000219087
RCV000520524
RCV000530644
RCV000662912
RCV003330582
RCV004541299
ClinVar Variation:
224577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu599Ser
CA031393
NM_000251.3:c.1796T>C