ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904207
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9642720623
Score
0.5147
Score
0.5341
Score
0.4926
Score
0.7404
Score
0.5968
Score
0.9273744573
Score
0.4659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu428Gln
CA338478200
NM_005957.5:c.1282G>C