Canonical Allele Identifier: PA2827140691
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519213
ClinVar RCV Id: RCV002024440

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Cys624Tyr
CA370223389
NM_001322042.2:c.1871G>A