ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904175
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.0226838865
Score
0.9745
Score
0.9455
Score
1.0727894954
Score
0.9335
Score
0.9188
Score
0.98
Score
0.9334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser427Ile
CA338478211
NM_005957.5:c.1280G>T