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_001373379.1:p.Phe175Leu
NM_001386450.1:c.523T>C
NM_001386450.1:c.525T>A
NM_001386450.1:c.525T>G