Allele Registry

Canonical Allele Identifier: PA095923

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105334

824447

ClinVar RCV:

RCV000085804

RCV001045653

RCV001074541

ClinVar Variation:

99445

843110

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu2096Lys	CA227386 NM_000350.3:c.6286G>A CA916082045 NM_000350.3:c.6285_6286delinsCA