ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2579904131
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.1152297154
Score
0.889
Score
1.1200896125
Score
0.7549
Score
0.8601
Score
0.8806
Score
0.7824
Score
0.8948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Leu425Arg
CA338478228
NM_005957.5:c.1274T>G