ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579898343
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2189756
ClinVar RCV Id:
RCV002611796
RCV003404109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg132His
CA595677
NM_005957.5:c.395G>A