Allele Registry

Canonical Allele Identifier: PA096489

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085630

RCV000504867

ClinVar Variation:

99277

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Phe1440Ser	CA227184 NM_000350.3:c.4319T>C