Allele Registry

Canonical Allele Identifier: PA645394904

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000502887

RCV000710631

RCV000763786

RCV004021407

ClinVar Variation:

294639

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Ser1189Phe	CA1310142 NM_018136.5:c.3566C>T