Canonical Allele Identifier: PA149261
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.2:p.Asp392Gly
CA149260
NM_024596.4:c.1175A>G
CA2739278721
NM_024596.4:c.1175_1176delinsGG