Allele Registry

Canonical Allele Identifier: PA645440385

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000485764

ClinVar Variation:

417988

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ile1130Thr	CA16617206 NM_000350.3:c.3389T>C