Canonical Allele Identifier: PA2826069260
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2072197
ClinVar RCV Id: RCV002962726 RCV003317633
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166046.1:p.Arg331Ile
CA4610469
NM_001172575.2:c.992G>T