Canonical Allele Identifier: PA2826069274
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96126
ClinVar RCV Id: RCV000082198 RCV000603959 RCV001664382
ClinVar Variation Id: 2799283
ClinVar RCV Id: RCV003668433
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166046.1:p.Asp344Gly
CA149260
NM_001172575.2:c.1031A>G
CA2739278721
NM_001172575.2:c.1031_1032delinsGG