Allele Registry

Canonical Allele Identifier: PA2499231427

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV001323880

RCV002499633

ClinVar Variation:

1023776

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg943Leu	CA958143 NM_000350.3:c.2828G>T