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_001308972.2:p.Thr478Ser
CA4610555
NM_001322043.2:c.1433C>G
CA370221638
NM_001322043.2:c.1432A>T