ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672963
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.4226302903
Linked Data - NCBI & NCI
ClinVar Allele:
472874
ClinVar RCV:
RCV000561848
RCV001065224
RCV003987610
ClinVar Variation:
483667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile747Val
CA346729739
NM_000251.3:c.2239A>G