Allele Registry

Canonical Allele Identifier: PA095942

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085879

ClinVar Variation:

99518

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Glu328Val	CA227477 NM_000350.3:c.983A>T