Allele Registry

Canonical Allele Identifier: PA645439919

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000484928

RCV001075584

RCV004529602

ClinVar Variation:

417982

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg653His	CA958377 NM_000350.3:c.1958G>A