Allele Registry

Canonical Allele Identifier: PA1139682571

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV001246510

ClinVar Variation:

970857

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Gly963Arg	CA341275345 NM_000350.3:c.2887G>C