ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673201
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.5245169209
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000539916
RCV000561718
RCV001357777
RCV003441913
RCV003459180
ClinVar Variation:
455581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Pro895Leu
CA346731558
NM_000251.3:c.2684C>T