Allele Registry

Canonical Allele Identifier: PA096612

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085534

RCV001074423

ClinVar Variation:

99185

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ser100Pro	CA227065 NM_000350.3:c.298T>C