ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579897964
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0806
Score
0.1435
Score
0.0844048858
Score
0.8915194294
Score
0.1344
Score
0.9289
Score
0.9499
Score
0.9137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ala113Pro
CA338422501
NM_005957.5:c.337G>C