Allele Registry

Canonical Allele Identifier: PA205315

Gene: ASPM HGNC NCBI

ClinVar RCV:

RCV000192474

RCV000710651

RCV000714630

RCV004020311

ClinVar Variation:

210363

HGVS (amino-acid)	Matching Registered Transcripts
NP_060606.3:p.Ser311Arg	CA205314 NM_018136.5:c.933C>G CA344018382 NM_018136.5:c.933C>A CA344018392 NM_018136.5:c.931A>C