Allele Registry

Canonical Allele Identifier: PA096220

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105080

ClinVar RCV:

RCV000085540

ClinVar Variation:

99191

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu1014Arg	CA227072 NM_000350.3:c.3041T>G