Canonical Allele Identifier: PA2827140580
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2232814
ClinVar RCV Id: RCV002746921

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Met458Val
CA4610533
NM_001322042.2:c.1372A>G