ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA299389
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.4263737131
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000160634
RCV000233011
RCV000491315
RCV001257466
RCV001269197
RCV003998485
ClinVar Variation:
182594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln397Glu
CA017431
NM_000251.3:c.1189C>G