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
ENSP00000359245.3:p.Trp700Arg
CA341278548
ENST00000370225.4:c.2098T>C
CA341278549
ENST00000370225.4:c.2098T>A