ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904180
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.7997
Score
1.1177881911
Score
0.9609
Score
0.8332
Score
0.9673
Score
0.9890240135
Score
0.9868
Score
0.8815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser427Asn
CA338478214
NM_005957.5:c.1280G>A