Canonical Allele Identifier: PA2826068834
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409670
ClinVar RCV Id: RCV001939890 RCV002478363
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166045.2:p.Arg493Cys
CA4610567
NM_001172574.2:c.1477C>T