ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198660
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.1404758969
Score
0.8856
Score
0.8533
Score
0.8818
Score
1.2143916032
Score
0.828
Score
0.8312
Score
0.8631
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167624
ClinVar Variation:
187904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser603Cys
CA198658
NM_005957.5:c.1808C>G