ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198588
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005948.3:p.Arg183Gln
NM_005957.5:c.548G>A