ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904190
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9522349712
Score
0.6931
Score
0.6159
Score
0.7071
Score
0.5315753424
Score
0.634
Score
0.9617
Score
0.9727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu428Ala
CA338478195
NM_005957.5:c.1283A>C