ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249662
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg398His
CA18001313
NM_001330358.2:c.1193G>A