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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.[Thr434_Ala444delinsProGluGlnLeuThrLeuProIleSerGlnGln;Thr446_Ile447delinsPro;Ser449del;Arg451_Thr453delinsValLeu;Asn455_Gly456delinsLysLeu;Gly458_Arg459delinsMetValLys;Thr461_Ser463delinsValGlnLeuArgVal]
CA459598856
NM_001322045.2:c.1300del