Canonical Allele Identifier: PA2827140594
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2388401
ClinVar RCV Id: RCV002703654

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Ile481Val
CA370221641
NM_001322042.2:c.1441A>G