ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472487
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.8587858026
Linked Data - NCBI & NCI
ClinVar Allele:
244377
ClinVar RCV:
RCV000236426
RCV000458697
RCV000564711
RCV001356679
RCV003998919
ClinVar Variation:
246308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val273Ile
CA040766
NM_000251.3:c.817G>A