Allele Registry

Canonical Allele Identifier: PA227052

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085523

RCV000504717

RCV000505078

RCV002498454

ClinVar Variation:

99174

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr972Asn	CA227051 NM_000350.3:c.2915C>A