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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.[Ser453_Arg455delinsValLeuGly;Thr457_Gly460delinsLeu;Gly462_Cys468delinsMet;Thr470_Ser471delinsLys;Pro473_Ala476delinsValGln;Cys479_Gln482delinsValAla]
CA370221652
ENST00000686750.1:c.1356del