Allele Registry

Canonical Allele Identifier: PA096642

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085695

RCV000408570

ClinVar Variation:

99342

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ser1689Pro	CA227270 NM_000350.3:c.5065T>C