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.Val2123Leu	CA341277463 NM_000350.3:c.6367G>T CA341277464 NM_000350.3:c.6367G>C