ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475361
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.7796458941
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000255143
RCV000501019
RCV000772137
RCV000803818
RCV001353568
ClinVar Variation:
265620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gly692Glu
CA10588345
NM_000251.3:c.2075G>A