ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474357
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.644740543
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000485109
RCV000572164
RCV000698504
RCV003470555
RCV004003319
ClinVar Variation:
420083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu478Phe
CA16617579
NM_000251.3:c.1432C>T