Allele Registry

Canonical Allele Identifier: PA171243

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000020789

RCV000145183

RCV002054456

ClinVar Variation:

21599

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Tyr2494His	CA171242 NM_018136.5:c.7480T>C