Allele Registry

Canonical Allele Identifier: PA645441062

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000486602

RCV000504970

RCV002248696

RCV002250633

ClinVar Variation:

417994

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Lys1978Glu	CA16617200 NM_000350.3:c.5932A>G