Allele Registry

Canonical Allele Identifier: PA095684

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085637

RCV000408472

RCV000763043

RCV001073630

RCV001808325

ClinVar Variation:

99284

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Cys1488Arg	CA227193 NM_000350.3:c.4462T>C