Allele Registry

Canonical Allele Identifier: PA227269

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105230

ClinVar RCV:

RCV000085694

RCV000986353

RCV001073381

RCV001099771

ClinVar Variation:

99341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Val1686Met	CA227268 NM_000350.3:c.5056G>A