ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198628
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.463
Score
0.8526
Score
0.6172042618
Score
0.6161
Score
0.7896
Score
0.6297
Score
1.0554955585
Score
0.5507
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167610
ClinVar Variation:
187890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Lys372Glu
CA198626
NM_005957.5:c.1114A>G