Allele Registry

Canonical Allele Identifier: PA645441403

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000408599

RCV001055307

ClinVar Variation:

236147

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu2109Pro	CA10602407 NM_000350.3:c.6326T>C