Canonical Allele Identifier: PA2827141571
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493466
ClinVar RCV Id: RCV000584915

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.Ile447Phe
CA4610557
NM_001322045.2:c.1339A>T