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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.[Ser481_Arg483delinsValLeuGly;Thr485_Gly488delinsLeu;Gly490_Cys496delinsMet;Thr498_Ser499delinsLys;Pro501_Ala504delinsValGln;Cys507_Gln510delinsValAla]
CA370221652
NM_001322043.2:c.1440del