ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331272
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
3.3074765896
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000076121
RCV000491100
RCV002514349
ClinVar Variation:
90625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu440Pro
CA017968
NM_000251.3:c.1319T>C