ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028008
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287060
ClinVar RCV Id:
RCV000312218
RCV002519278
RCV004021216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Glu326Lys
CA595522
NM_001330358.2:c.976G>A