ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ABCA4
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000439707.2:p.Trp200Arg
ENST00000536513.5:c.598T>A
ENST00000536513.5:c.598T>C
