Canonical Allele Identifier: PA2827141146
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966836
ClinVar RCV Id: RCV002745627

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Tyr413Asp
CA370221232
NM_001322043.2:c.1237T>G