Allele Registry

Canonical Allele Identifier: PA171268

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000020801

RCV000145204

RCV000710085

ClinVar Variation:

21611

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Leu2647Ile	CA171267 NM_018136.5:c.7939C>A