Allele Registry

Canonical Allele Identifier: PA095757

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000415009

RCV001199212

RCV001861442

ClinVar Variation:

373916

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Cys230Ser	CA16043373 NM_000350.3:c.688T>A CA341289347 NM_000350.3:c.689G>C