Canonical Allele Identifier: PA2827141192
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2388401
ClinVar RCV Id: RCV002703654
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Ile479Val
CA370221641
NM_001322043.2:c.1435A>G