ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299393
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.2995302204
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160636
RCV000212610
RCV000462601
RCV000986680
ClinVar Variation:
182596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val605Ile
CA019367
NM_000251.3:c.1813G>A