Allele Registry

Canonical Allele Identifier: PA227234

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085669

RCV001376269

ClinVar Variation:

99316

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu1583Pro	CA227233 NM_000350.3:c.4748T>C