Allele Registry

Canonical Allele Identifier: PA096145

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085531

RCV000505091

RCV001073380

RCV002247488

RCV002580464

RCV003989317

RCV004529886

ClinVar Variation:

99182

1904854

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gly991Arg	CA227061 NM_000350.3:c.2971G>C CA341275181 NM_000350.3:c.2971G>A