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: MTHFR
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_005263520.1:p.Glu347Ala
XM_005263463.4:c.1040A>C