ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472013
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.278961329
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000221892
RCV000538161
RCV001139363
RCV003997867
ClinVar Variation:
230895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln252Pro
CA10577948
NM_000251.3:c.755A>C