Allele Registry

Canonical Allele Identifier: PA645440352

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000408518

RCV000478178

RCV001074682

RCV001196593

ClinVar Variation:

236100

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg1098Cys	CA957993 NM_000350.3:c.3292C>T