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.Gln2238His	CA341276250 NM_000350.3:c.6714G>T CA341276251 NM_000350.3:c.6714G>C