Allele Registry

Canonical Allele Identifier: PA645439867

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

272562

ClinVar RCV:

RCV000388365

ClinVar Variation:

288325

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Met448Lys	CA958570 NM_000350.3:c.1343T>A