ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2579898377
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1042820
ClinVar RCV Id:
RCV001346835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg134Cys
CA595676
NM_005957.5:c.400C>T