ClinGen Allele Registry
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Canonical Allele Identifier:
PA239870
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.0378809152
Score
0.9726
Score
0.9586
Score
0.8014
Score
0.8386
Score
0.902
Score
1.0354081973
Score
0.9445
Linked Data - NCBI & NCI
ClinVar Allele:
191234
ClinVar RCV:
RCV000174348
RCV000433699
RCV001516074
RCV003965255
ClinVar Variation:
194071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg594Gln
CA239868
NM_005957.5:c.1781G>A