ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198582
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2307
Score
0.4184
Score
0.6653025939
Score
0.0531
Score
0.3196309939
Score
0.4003
Score
0.2387
Score
0.1583
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167594
ClinVar Variation:
187874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Cys130Arg
CA198580
NM_005957.5:c.388T>C