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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000430768.1:p.[Ser435_Arg437delinsValLeuGly;Thr439_Gly442delinsLeu;Gly444_Cys450delinsMet;Thr452_Ser453delinsLys;Pro455_Ala458delinsValGln;Cys461_Gln464delinsValAla]
CA370221652
ENST00000522905.1:c.1302del