ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904149
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.0314061967
Score
0.7766
Score
0.9271
Score
0.9467
Score
0.922
Score
1.0121337812
Score
0.9322
Score
0.9739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Thr426Ala
CA338478226
NM_005957.5:c.1276A>G