Allele Registry

Canonical Allele Identifier: PA096349

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000008347

RCV000085774

ClinVar Variation:

7893

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu1971Arg	CA119134 NM_000350.3:c.5912T>G