ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287450
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.0910733468
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115528
RCV000195415
RCV000212583
RCV000524406
RCV000986649
RCV001353804
RCV001719858
RCV003492474
ClinVar Variation:
127644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu128Val
CA021100
NM_000251.3:c.382C>G