Allele Registry

Canonical Allele Identifier: PA645440428

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000479551

RCV001073935

RCV001101857

ClinVar Variation:

417989

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gly1203Arg	CA16617205 NM_000350.3:c.3607G>A CA341289807 NM_000350.3:c.3607G>C