ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828086561
Gene: CCM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2686
ClinVar RCV Id:
RCV000002805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350387.1:p.Leu198Arg
CA252400
NM_001363458.2:c.593T>G