ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: CCM2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000370503.3:p.Arg40Ter
ENST00000381112.7:c.[117_118del;120A>T;12...
ENST00000381112.7:c.118C>T