Allele Registry

Canonical Allele Identifier: PA095959

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085564

RCV000408464

RCV001198727

ClinVar Variation:

99213

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gly1091Glu	CA227099 NM_000350.3:c.3272G>A