ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434297
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.1670628166
Score
0.8376
Score
0.4297
Score
0.9588278872
Score
0.7396
Score
0.6068
Score
0.8173
Score
0.8404
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416935
ClinVar Variation:
222894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Pro202Thr
CA16044132
NM_005957.5:c.604C>A