Allele Registry

Canonical Allele Identifier: PA340712

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000008331

RCV001040974

ClinVar Variation:

7881

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ala1028Val	CA340711 NM_000350.3:c.3083C>T