This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510652.1:p.Thr682Ser
CA4610790
ENST00000691435.1:c.2045C>G
CA370215725
ENST00000691435.1:c.2044A>T