Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: ABCA4 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr2239Ser	CA341276245 NM_000350.3:c.6716C>G CA341276247 NM_000350.3:c.6715A>T