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
ENSP00000439707.2:p.Trp200Arg
CA227166
ENST00000536513.5:c.598T>C
CA341286145
ENST00000536513.5:c.598T>A