ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434381
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.6137
Score
0.8334
Score
0.7158
Score
0.8081
Score
0.7514428609
Score
0.828
Score
0.7495720044
Score
0.605
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416797
ClinVar Variation:
222896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg345Cys
CA595462
NM_005957.5:c.1033C>T