Canonical Allele Identifier: PA2826068799
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2229547
ClinVar RCV Id: RCV002697528
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166045.2:p.Lys450del
CA580027947
NM_001172574.2:c.1348_1350del