ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904226
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8586062345
Score
0.9438
Score
0.7434
Score
0.7237
Score
0.8872
Score
1.2866451141
Score
0.8944
Score
0.9643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu429Gln
CA338478180
NM_005957.5:c.1285G>C