ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198597
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0311
Score
0.3919
Score
0.2190808476
Score
0.2034
Score
0.4377414373
Score
0.0477
Score
0.0331
Score
0.4
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167599
ClinVar Variation:
187879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ile225Leu
CA198595
NM_005957.5:c.673A>C