Allele Registry

Canonical Allele Identifier: PA096759

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085624

RCV000176915

RCV000294305

RCV000307168

RCV000346856

RCV000408392

RCV001098065

RCV003888474

ClinVar Variation:

99271

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr1428Met	CA202170 NM_000350.3:c.4283C>T