ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198585
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.6771
Score
0.0966623777
Score
0.6108
Score
0.2517588648
Score
0.4015
Score
0.4935
Score
0.579
Score
0.3315
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167595
ClinVar Variation:
187875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Gln147Pro
CA198583
NM_005957.5:c.440A>C