ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904141
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.2857872414
Score
0.8954
Score
0.6716
Score
1.0809232096
Score
0.5268
Score
0.9141
Score
0.8682
Score
0.7521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Leu425Pro
CA338478229
NM_005957.5:c.1274T>C