Canonical Allele Identifier: PA2826069369
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499746
ClinVar RCV Id: RCV000594510 RCV000766029 RCV003905533
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166046.1:p.Lys402Thr
CA4610527
NM_001172575.2:c.1205A>C