Allele Registry

Canonical Allele Identifier: PA913196496

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000786893

RCV001002840

RCV003768465

ClinVar Variation:

635441

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg653Leu	CA341278906 NM_000350.3:c.1958G>T