ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197671
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.038550641
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167178
RCV000706985
RCV001356340
RCV003995570
ClinVar Variation:
187449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile906Arg
CA020901
NM_000251.3:c.2717T>G