Allele Registry

Canonical Allele Identifier: PA096880

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000023140

RCV000085480

RCV001075705

ClinVar Variation:

30217

99136

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Trp821Arg	CA227001 NM_000350.3:c.2461T>A CA341277042 NM_000350.3:c.2461T>C