ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106453
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3519
ClinVar RCV Id:
RCV001382824
RCV002476918
RCV003460410
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg157Gln
CA278053
NM_005957.5:c.470G>A