Allele Registry

Canonical Allele Identifier: PA645441043

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000408510

RCV000778996

RCV001229952

ClinVar Variation:

236140

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gly1961Arg	CA957094 NM_000350.3:c.5881G>A CA341279850 NM_000350.3:c.5881G>C