ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579907668
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.0744377537
Score
0.9733
Score
0.9782
Score
1.1011180665
Score
0.9582
Score
0.9367
Score
0.9499
Score
0.9712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser603Phe
CA338473851
NM_005957.5:c.1808C>T