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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016869321.1:p.[Thr468_Ala478delinsProGluGlnLeuThrLeuProIleSerGlnGln;Thr480_Ile481delinsPro;Ser483del;Arg485_Thr487delinsValLeu;Asn489_Gly490delinsLysLeu;Gly492_Arg493delinsMetValLys;Thr495_Ser497delinsValGlnLeuArgVal]
CA459598856
XM_017013832.2:c.1402del