Allele Registry

Canonical Allele Identifier: PA096175

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085815

ClinVar Variation:

99455

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.His2128Arg	CA227399 NM_000350.3:c.6383A>G