ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658739819
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.0659238911
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000580301
RCV000629841
RCV001193286
RCV002245022
RCV004001259
ClinVar Variation:
489942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile883Met
CA037199
NM_000251.3:c.2649T>G