ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028025
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3528
ClinVar RCV Id:
RCV000642247
RCV000756357
RCV003460411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg418Cys
CA278059
NM_001330358.2:c.1252C>T