ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434413
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286247
ClinVar RCV Id:
RCV000385555
RCV000811402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu470Leu
CA10605414
NM_005957.5:c.1408_1409delinsCT