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Canonical Allele Identifier: Get Identifier
Gene: CCM2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000258781.6:p.[Ser166_Gln167delinsGlnProGlu;Leu169Val;Ala171_Ser174delinsGlyLysPheGln;Gly176_Ser183delinsProGlnCysArgLeuProValGly;Glu184_Ser185insCys;Ser185_Ala186insTrp;Val187Arg;Pro189_Leu195delinsGlyMetLeuPro]
CA2695207698
ENST00000258781.10:c.495dup