Allele Registry

Canonical Allele Identifier: PA119143

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000008367

RCV000008368

ClinVar Variation:

7909

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ala1762Asp	CA119142 NM_000350.3:c.5285C>A