Allele Registry

Canonical Allele Identifier: PA096740

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000412846

RCV001002835

RCV001074386

ClinVar Variation:

289310

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr1019Met	CA958052 NM_000350.3:c.3056C>T