Allele Registry

Canonical Allele Identifier: PA232812

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000132584

RCV000490464

ClinVar Variation:

143072

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu432Lys	CA232811 NM_000350.3:c.1294G>A