ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741857997
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003359626
ClinVar Variation:
2604970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Leu466Val
CA595402
NM_001330358.2:c.1396C>G