Allele Registry

Canonical Allele Identifier: PA645441573

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000408559

RCV001378637

ClinVar Variation:

236149

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ala2216Val	CA10602405 NM_000350.3:c.6647C>T