Allele Registry

Canonical Allele Identifier: PA096597

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085457

RCV000414796

RCV000626666

RCV001074514

RCV001198384

RCV004529883

ClinVar Variation:

99113

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Pro68Leu	CA226972 NM_000350.3:c.203C>T