Allele Registry

Canonical Allele Identifier: PA226910

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085409

RCV000132585

ClinVar Variation:

99066

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Cys54Phe	CA226909 NM_000350.3:c.161G>T