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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000430962.1:p.[Ser482_Ser483del;Arg485_Thr487delinsValLeu;Asn489_Gly490delinsLysLeu;Gly492_Cys498delinsMet;Thr500_Ser501delinsLys;Pro503_Ala506delinsValGln;Cys509_Arg511delinsValAla]
CA459599027
ENST00000519480.6:c.1444del