ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580202645
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg418Ser
CA338479424
NM_001330358.2:c.1252C>A