Allele Registry

Canonical Allele Identifier: PA645439770

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000481221

ClinVar Variation:

417980

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg226Leu	CA958766 NM_000350.3:c.677G>T