ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580202587
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg173His
CA595677
NM_001330358.2:c.518G>A