Allele Registry

Canonical Allele Identifier: PA096842

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085613

RCV000210333

RCV000408501

ClinVar Variation:

99260

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Trp1408Arg	CA227166 NM_000350.3:c.4222T>C CA341286145 NM_000350.3:c.4222T>A