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.Asn441Lys
CA370221610
NM_001322045.2:c.1323T>A
CA370221611
NM_001322045.2:c.1323T>G