Canonical Allele Identifier: PA2827140569
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409367
ClinVar RCV Id: RCV001939798

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Ser446Arg
CA4610523
NM_001322042.2:c.1336A>C
CA370221431
NM_001322042.2:c.1338T>A
CA370221432
NM_001322042.2:c.1338T>G