Allele Registry

Canonical Allele Identifier: PA095886

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085562

RCV001075833

RCV001199228

RCV001808323

RCV001814057

RCV002466427

RCV002498455

ClinVar Variation:

99211

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu1087Lys	CA227097 NM_000350.3:c.3259G>A