ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA198585
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187875
ClinVar RCV Id:
RCV000167595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Gln147Pro
CA198583
NM_005957.5:c.440A>C