ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904210
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9666
Score
0.9568
Score
0.7868
Score
0.9231
Score
1.036165199
Score
0.9396323054
Score
0.9495
Score
0.9275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu429Val
CA338478174
NM_005957.5:c.1286A>T