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
ENSP00000503659.1:p.Met239Ile
ENST00000678706.1:c.717G>A
ENST00000678706.1:c.717G>C
ENST00000678706.1:c.717G>T