ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165339
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.7940425484
Linked Data - NCBI & NCI
ClinVar Allele:
151120
ClinVar RCV:
RCV000129911
RCV000465942
RCV001551502
RCV003460906
RCV003997535
ClinVar Variation:
141406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser233Cys
CA022041
NM_000251.3:c.698C>G