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
ENSP00000510536.1:p.Ser446Arg
CA4610523
ENST00000690826.1:c.1336A>C
CA370221431
ENST00000690826.1:c.1338T>A
CA370221432
ENST00000690826.1:c.1338T>G