ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904174
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.7626
Score
1.1592765588
Score
0.7304
Score
0.9313316233
Score
0.9759
Score
0.9694
Score
0.8167
Score
0.9616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser427Thr
CA338478216
NM_005957.5:c.1280G>C