Canonical Allele Identifier: PA2827141524
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966836
ClinVar RCV Id: RCV002745627

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.Tyr381Asp
CA370221232
NM_001322045.2:c.1141T>G