Allele Registry

Canonical Allele Identifier: PA170082

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000132594

RCV001857474

RCV003888541

ClinVar Variation:

143077

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg255Cys	CA170081 NM_000350.3:c.763C>T