Allele Registry

Canonical Allele Identifier: PA227241

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085675

ClinVar Variation:

99322

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu161Lys	CA227240 NM_000350.3:c.481G>A