ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827305914
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208196
ClinVar RCV Id:
RCV000190392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Pro107Leu
CA204396
NM_001330358.2:c.320C>T