ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904218
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8464
Score
0.8783
Score
0.8288
Score
0.9082539756
Score
1.17509799
Score
0.5867
Score
0.8394
Score
0.9065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu429Gly
CA338478176
NM_005957.5:c.1286A>G