Allele Registry

Canonical Allele Identifier: PA096391

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085842

RCV001075761

ClinVar Variation:

99481

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu2229Pro	CA227432 NM_000350.3:c.6686T>C