ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658738024
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
4.2989746921
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000589611
RCV001220102
RCV002384283
RCV003451329
ClinVar Variation:
495768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ile454Arg
CA346724761
NM_000251.3:c.1361T>G