Allele Registry

Canonical Allele Identifier: PA171258

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000145197

RCV000393841

RCV000513997

ClinVar Variation:

157878

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Val2596Ala	CA171257 NM_018136.5:c.7787T>C