Canonical Allele Identifier: PA2826069432
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198906
ClinVar RCV Id: RCV000180367 RCV001818445
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166046.1:p.Ala446Thr
CA247805
NM_001172575.2:c.1336G>A