ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198606
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0084654689
Score
0.0262
Score
0.0324
Score
0.0336
Score
0.1426440718
Score
0.0189
Score
0.0189
Score
0.0298
Linked Data - NCBI & NCI
ClinVar Allele:
185781
ClinVar RCV:
RCV000167602
ClinVar Variation:
187882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Gly255Val
CA198604
NM_005957.5:c.764G>T