Allele Registry

Canonical Allele Identifier: PA096840

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085522

RCV000999861

RCV002225080

ClinVar Variation:

99173

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr971Asn	CA227050 NM_000350.3:c.2912C>A