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
ENSP00000509054.1:p.[Ser483_Arg485delinsValLeuGly;Thr487_Gly490delinsLeu;Gly492_Cys498delinsMet;Thr500_Ser501delinsLys;Pro503_Ala506delinsValGln;Cys509_Gln512delinsValAla]
CA370221652
ENST00000689633.1:c.1446del