Allele Registry

Canonical Allele Identifier: PA096811

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085500

RCV000260644

RCV000280747

RCV000315748

RCV000375069

RCV000408596

RCV001096530

RCV001197697

ClinVar Variation:

99153

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr897Ile	CA227022 NM_000350.3:c.2690C>T