Canonical Allele Identifier: PA2573285422
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421730
ClinVar RCV Id: RCV001917073
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Ile473Leu
CA370221595
NM_024596.5:c.1417A>C