Allele Registry

Canonical Allele Identifier: PA095906

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085609

RCV000132591

RCV003888473

ClinVar Variation:

99256

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu1399Lys	CA227162 NM_000350.3:c.4195G>A