Allele Registry

Canonical Allele Identifier: PA096110

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105024

ClinVar RCV:

RCV000085479

RCV000787774

RCV001075477

RCV002250561

ClinVar Variation:

99135

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gly818Glu	CA227000 NM_000350.3:c.2453G>A