Canonical Allele Identifier: PA916077495
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493466
ClinVar RCV Id: RCV000584915

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Ile481Phe
CA4610557
NM_024596.5:c.1441A>T