ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904146
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.6675163497
Score
1.1917159735
Score
0.6416
Score
0.8099
Score
0.9192
Score
0.8822
Score
0.8503
Score
0.9282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Leu425Gln
CA338478230
NM_005957.5:c.1274T>A