ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116325
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005948.3:p.Met581Ile
NM_005957.5:c.1743G>A
NM_005957.5:c.1743G>C
NM_005957.5:c.1743G>T