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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533062.1:p.[Thr293_Ala303delinsProGluGlnLeuThrLeuProIleSerGlnGln;Thr305_Ile306delinsPro;Ser308del;Arg310_Thr312delinsValLeu;Asn314_Gly315delinsLysLeu;Gly317_Arg318delinsMetValLys;Thr320_Ser322delinsValGlnLeuArgVal]
CA459598856
XM_011534760.2:c.877del