ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474333
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.8941685581
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000225970
RCV000573569
RCV000985795
RCV003150132
RCV003338475
RCV003998755
ClinVar Variation:
237367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Met460Val
CA028135
NM_000251.3:c.1378A>G