Allele Registry

Canonical Allele Identifier: PA096728

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085543

ClinVar Variation:

99194

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr1019Ala	CA227075 NM_000350.3:c.3055A>G