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: CLCN1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_016867229.1:p.Arg346Ser
XM_017011740.1:c.1038G>C
XM_017011740.1:c.1038G>T