ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645470996
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.1636989793
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000226454
RCV000664273
RCV001658053
RCV002282071
RCV003998766
ClinVar Variation:
237411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro27Thr
CA10581989
NM_000251.3:c.79C>A