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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.[Ser307_Ser308del;Arg310_Thr312delinsValLeu;Asn314_Gly315delinsLysLeu;Gly317_Cys323delinsMet;Thr325_Ser326delinsLys;Pro328_Ala331delinsValGln;Cys334_Arg336delinsValAla]
CA459599027
XM_011534760.2:c.919del