ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475482
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.4946200102
Linked Data - NCBI & NCI
ClinVar Allele:
232625
ClinVar RCV:
RCV000214268
RCV000524727
RCV004532799
ClinVar Variation:
232677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Lys720Glu
CA034415
NM_000251.3:c.2158A>G