Allele Registry

Canonical Allele Identifier: PA096994

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085471

RCV000408526

RCV001074642

ClinVar Variation:

99127

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Val767Asp	CA226990 NM_000350.3:c.2300T>A