ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474330
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.2081602532
Linked Data - NCBI & NCI
ClinVar Allele:
392878
ClinVar RCV:
RCV000467391
RCV000491177
RCV001764410
RCV003463909
RCV004000792
ClinVar Variation:
408536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile454Thr
CA16610869
NM_000251.3:c.1361T>C