ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904161
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9371740929
Score
1.0025955518
Score
0.9567
Score
0.954
Score
0.8977
Score
0.9618
Score
0.7241
Score
0.7674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Thr426Asn
CA338478223
NM_005957.5:c.1277C>A