Allele Registry

Canonical Allele Identifier: PA645439863

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000295678

RCV000330893

RCV000343633

RCV000387710

RCV000523526

RCV001102042

ClinVar Variation:

298262

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Tyr440Cys	CA958572 NM_000350.3:c.1319A>G