ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA198612
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187884
ClinVar RCV Id:
RCV000167604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Phe257Val
CA198610
NM_005957.5:c.769T>G