ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904162
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8409
Score
1.1194384187
Score
0.819
Score
0.7541
Score
0.8983080313
Score
0.7957
Score
0.842
Score
0.7807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Thr426Pro
CA338478227
NM_005957.5:c.1276A>C