Allele Registry

Canonical Allele Identifier: PA095523

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105051

ClinVar RCV:

RCV000085510

RCV001074959

RCV003330430

RCV004529885

ClinVar Variation:

99162

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg943Trp	CA227037 NM_000350.3:c.2827C>T