ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472010
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.324349126
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000230625
RCV000564902
RCV001557291
RCV003463649
RCV003998764
ClinVar Variation:
237405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln252Arg
CA040278
NM_000251.3:c.755A>G