ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106487
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1452549
ClinVar RCV Id:
RCV001999864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg357Cys
CA595453
NM_005957.5:c.1069C>T