ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095099
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.2880239063
Linked Data - NCBI & NCI
ClinVar Allele:
16792
ClinVar RCV:
RCV000001823
RCV000076307
RCV000566777
RCV000630204
RCV002460877
ClinVar Variation:
1753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro622Leu
CA019478
NM_000251.3:c.1865C>T