Allele Registry

Canonical Allele Identifier: PA271098

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000145182

RCV000593662

ClinVar Variation:

157869

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Lys2476Asn	CA271097 NM_018136.5:c.7428G>T CA344018994 NM_018136.5:c.7428G>C