ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672703
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.8282701619
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000525389
RCV000573132
RCV001139481
RCV004003739
ClinVar Variation:
455523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr594Ile
CA346728292
NM_000251.3:c.1781C>T