Allele Registry

Canonical Allele Identifier: PA095933

Gene: ABCA4 HGNC NCBI

ClinVar Variation Id: 99457

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu2131Lys	CA227401 NM_000350.3:c.6391G>A