This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.[Thr468_Ala478delinsProGluGlnLeuThrLeuProIleSerGlnGln;Thr480_Ile481delinsPro;Ser483del;Arg485_Thr487delinsValLeu;Asn489_Gly490delinsLysLeu;Gly492_Arg493delinsMetValLys;Thr495_Ser497delinsValGlnLeuArgVal]
CA459598856
NM_024596.5:c.1402del