Allele Registry

Canonical Allele Identifier: PA097016

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085485

RCV000986366

RCV001074506

ClinVar Variation:

99141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Val849Ala	CA227008 NM_000350.3:c.2546T>C