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
ENSP00000509554.1:p.Lys486Asn
CA370221676
ENST00000689348.1:c.1458A>C
CA370221677
ENST00000689348.1:c.1458A>T