Allele Registry

Canonical Allele Identifier: PA645510973

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000504799

RCV002524408

ClinVar Variation:

438097

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu1576Arg	CA341283909 NM_000350.3:c.4727T>G