ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2579904198
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3495
Score
0.8423
Score
0.3868
Score
0.859739211
Score
0.8659
Score
0.7254
Score
0.8827
Score
1.1336911419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu428Lys
CA338478202
NM_005957.5:c.1282G>A