Allele Registry

Canonical Allele Identifier: PA096691

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085388

RCV000210294

RCV000504649

ClinVar Variation:

99045

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ser445Arg	CA226886 NM_000350.3:c.1335C>G CA341282288 NM_000350.3:c.1335C>A CA341282294 NM_000350.3:c.1333A>C