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_001166045.2:p.Lys486Asn
CA370221676
NM_001172574.2:c.1458A>C
CA370221677
NM_001172574.2:c.1458A>T