ClinGen Allele Registry
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:
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000501910.1:p.Cys1417Ser
ENST00000675218.1:c.4249T>A
ENST00000675218.1:c.4250G>C