Allele Registry

Canonical Allele Identifier: PA096520

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

237692

ClinVar RCV:

RCV000408543

RCV001074552

RCV001090315

RCV001723810

ClinVar Variation:

236087

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Phe608Ile	CA958417 NM_000350.3:c.1822T>A