Allele Registry

Canonical Allele Identifier: PA2826287758

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000307688

RCV000339532

RCV003967741

ClinVar Variation:

284745

HGVS (amino-acid)	Matching Registered Transcripts
NP_001193775.1:p.Ser1712Tyr	CA1308829 NM_001206846.2:c.5135C>A