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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.1:p.[Ser480_Ser481del;Arg483_Thr485delinsValLeu;Asn487_Gly488delinsLysLeu;Gly490_Cys496delinsMet;Thr498_Ser499delinsLys;Pro501_Ala504delinsValGln;Cys507_Arg509delinsValAla]
CA459599027
NM_001322043.1:c.1438del