ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904191
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.0146266944
Score
0.9554
Score
0.9465
Score
1.0170114016
Score
0.8923
Score
0.9933
Score
0.9428
Score
0.9846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu428Val
CA338478191
NM_005957.5:c.1283A>T