Allele Registry

Canonical Allele Identifier: PA095748

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105352

ClinVar RCV:

RCV000085823

RCV000408531

RCV001074378

ClinVar Variation:

99463

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Cys2150Tyr	CA227408 NM_000350.3:c.6449G>A