ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2579904181
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9085
Score
0.9877
Score
0.8895
Score
0.9848107169
Score
0.8346
Score
0.9687
Score
1.0660395411
Score
0.9191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser427Cys
CA338478219
NM_005957.5:c.1279A>T