×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028017
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222896
ClinVar RCV Id:
RCV000416797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg386Cys
CA595462
NM_001330358.2:c.1156C>T