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Canonical Allele Identifier: Get Identifier
Gene: CCM2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350388.1:p.[Ser108_Gln109delinsGlnProGlu;Leu111Val;Ala113_Ser116delinsGlyLysPheGln;Gly118_Ser125delinsProGlnCysArgLeuProValGly;Glu126_Ser127insCys;Ser127_Ala128insTrp;Val129Arg;Pro131_Leu137delinsGlyMetLeuPro]
CA2695207698
NM_001363459.2:c.321dup