Allele Registry

Canonical Allele Identifier: PA095691

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085639

RCV002225081

RCV002470764

ClinVar Variation:

99286

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Cys1488Phe	CA227195 NM_000350.3:c.4463G>T