Canonical Allele Identifier: PA2827140682
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2601067
ClinVar RCV Id: RCV003359230

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Val610Gly
CA4610674
NM_001322042.2:c.1829T>G