ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2579899718
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005236891
ClinVar Variation:
3768039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Pro202Ser
CA338481066
NM_005957.5:c.604C>T