Canonical Allele Identifier: PA645470663
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_078872.2:p.Thr468Asn
NM_024596.4:c.[1402dup;1404del]

NM_024596.4:c.1403C>A