Allele Registry

Canonical Allele Identifier: PA119131

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000008336

RCV000085827

RCV000243384

RCV000268191

RCV000323169

RCV000359301

RCV000362825

RCV001099675

ClinVar Variation:

7885

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Asp2177Asn	CA119130 NM_000350.3:c.6529G>A