ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904199
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9039439262
Score
0.9932531306
Score
0.9435
Score
0.9173
Score
0.9816
Score
0.9553
Score
0.8837
Score
0.9808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu428Gly
CA338478193
NM_005957.5:c.1283A>G