ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579900125
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.1364435288
Score
0.3035
Score
0.0137
Score
0.488
Score
0.0049
Score
0.6255
Score
0.8582
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ala222Gly
CA338480812
NM_005957.5:c.665C>G