Allele Registry

Canonical Allele Identifier: PA645510974

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000504832

ClinVar Variation:

438099

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ser1696Arg	CA341282739 NM_000350.3:c.5088C>G CA341282740 NM_000350.3:c.5088C>A CA341282743 NM_000350.3:c.5086A>C