Allele Registry

Canonical Allele Identifier: PA645440942

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000430778

RCV001073276

ClinVar Variation:

377405

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Pro1761Arg	CA16603704 NM_000350.3:c.5282C>G