ClinGen Allele Registry
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Canonical Allele Identifier:
PA658672951
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.2503410709
Linked Data - NCBI & NCI
ClinVar Allele:
451371
ClinVar RCV:
RCV000532179
RCV000568631
RCV001755787
RCV004003742
ClinVar Variation:
455550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser734Cys
CA346729424
NM_000251.3:c.2201C>G