ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904178
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9203
Score
0.8815
Score
0.8765
Score
1.1371916619
Score
0.8822
Score
1.0117909736
Score
0.8764
Score
0.9023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser427Gly
CA338478222
NM_005957.5:c.1279A>G