ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474295
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.1419555734
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487340
RCV001010926
RCV001030709
RCV001851231
RCV004003373
ClinVar Variation:
422351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro439Ala
CA16617576
NM_000251.3:c.1315C>G