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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509053.1:p.[Thr438_Ala448delinsProGluGlnLeuThrLeuProIleSerGlnGln;Thr450_Ile451delinsPro;Ser453del;Arg455_Thr457delinsValLeu;Asn459_Gly460delinsLysLeu;Gly462_Arg463delinsMetValLys;Thr465_Ser467delinsValGlnLeuArgVal]
CA459598856
ENST00000686750.1:c.1312del