Allele Registry

Canonical Allele Identifier: PA095471

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000008357

RCV000085416

RCV001074326

ClinVar Variation:

7900

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg572Gln	CA226918 NM_000350.3:c.1715G>A