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
ENSP00000439707.2:p.His994Gln	CA341276478 ENST00000536513.5:c.2982C>G CA341276479 ENST00000536513.5:c.2982C>A