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
NP_001308974.2:p.Ser449Arg
CA370221653
NM_001322045.2:c.1345A>C
CA370221659
NM_001322045.2:c.1347T>A
CA370221660
NM_001322045.2:c.1347T>G