ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028054
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187899
ClinVar RCV Id:
RCV000167619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Val616Gly
CA198647
NM_001330358.2:c.1847T>G