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:
Get Identifier
Gene:
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001041636.1:p.Asp257His
NM_001048171.1:c.769G>C