ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2579904217
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9241847904
Score
0.8007
Score
0.9858
Score
1.1501349478
Score
0.8599
Score
0.8562
Score
0.8471
Score
0.6859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu429Lys
CA338478182
NM_005957.5:c.1285G>A