ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672970
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3309250653
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000565456
RCV000759112
RCV000793685
RCV004000849
ClinVar Variation:
479790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Thr756Ala
CA035125
NM_000251.3:c.2266A>G