Allele Registry

Canonical Allele Identifier: PA271002

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000145082

RCV001312116

RCV002514787

ClinVar Variation:

157780

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Ser463Asn	CA271001 NM_018136.5:c.1388G>A