Allele Registry

Canonical Allele Identifier: PA244969

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000296428

RCV000790718

ClinVar Variation:

197055

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu1850Pro	CA244968 NM_000350.3:c.5549T>C