ClinGen Allele Registry
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Canonical Allele Identifier:
PA658671793
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-4.708352429
Linked Data - NCBI & NCI
ClinVar Allele:
472781
ClinVar RCV:
RCV000563062
RCV001221191
RCV004000856
ClinVar Variation:
479816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Arg214Gly
CA346731212
NM_000251.3:c.640A>G