Allele Registry

Canonical Allele Identifier: PA096784

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085659

RCV000408504

RCV001002608

ClinVar Variation:

99306

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr1537Met	CA227222 NM_000350.3:c.4610C>T