Canonical Allele Identifier: PA2828128978
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2601067
ClinVar RCV Id: RCV003359230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Val610Gly
CA4610674
NM_001363979.1:c.1829T>G