ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904132
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9146
Score
0.8923
Score
0.4815165354
Score
0.4831
Score
0.7182
Score
0.571
Score
1.0985581764
Score
0.9073
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003359626
ClinVar Variation:
2604970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Leu425Val
CA595402
NM_005957.5:c.1273C>G