Allele Registry

Canonical Allele Identifier: PA095702

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105174

ClinVar RCV:

RCV000085638

RCV000408580

ClinVar Variation:

99285

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Cys1488Tyr	CA227194 NM_000350.3:c.4463G>A