Canonical Allele Identifier: PA2827140550
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433680
ClinVar RCV Id: RCV003132615

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Tyr415Cys
CA4610502
NM_001322042.2:c.1244A>G