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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496882.1:p.Cys230Ser
CA16043373
ENST00000649773.1:c.688T>A
CA341289347
ENST00000649773.1:c.689G>C