ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658812566
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1579
Score
0.2423
Score
0.2276
Score
0.5325
Score
0.2468
Score
0.2626
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000594799
RCV002265818
ClinVar Variation:
501216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Met1Ile