ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471332
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.6906307409
Linked Data - NCBI & NCI
ClinVar Allele:
232522
ClinVar RCV:
RCV000215101
RCV000227027
RCV001030705
RCV001532987
RCV003997972
ClinVar Variation:
232406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val89Ala
CA10577929
NM_000251.3:c.266T>C