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
ENSP00000509054.1:p.Ala668Val
CA172521
ENST00000689633.1:c.2003C>T
CA2739279880
ENST00000689633.1:c.2003_2004delinsTA