Allele Registry

Canonical Allele Identifier: PA241081

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000724422

RCV000763780

RCV002516673

ClinVar Variation:

194877

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Arg2690Trp	CA241080 NM_018136.5:c.8068C>T