ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA198576
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187872
ClinVar RCV Id:
RCV000167592
RCV003462247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ala113Thr
CA198574
NM_005957.5:c.337G>A