ClinGen Allele Registry
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Canonical Allele Identifier:
PA331559
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.0723818477
Linked Data - NCBI & NCI
ClinVar Allele:
96516
ClinVar RCV:
RCV000221964
RCV000412138
RCV000552261
RCV001196697
RCV001353838
RCV003387753
RCV003997169
ClinVar Variation:
91041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu92Val
CA020916
NM_000251.3:c.274C>G