Allele Registry

Canonical Allele Identifier: PA095801

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085646

RCV000505160

RCV001376334

ClinVar Variation:

99293

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gln1513Arg	CA227206 NM_000350.3:c.4538A>G