Canonical Allele Identifier: PA172522
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.2:p.Ala761Val
CA172521
NM_024596.4:c.2282C>T
CA2739279880
NM_024596.4:c.2282_2283delinsTA