Allele Registry

Canonical Allele Identifier: PA915961574

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000901876

RCV001098366

ClinVar Variation:

727524

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg226His	CA958767 NM_000350.3:c.677G>A