ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123308
Gene: MTHFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005947.3:p.Arg293His
CA123307
NM_005956.4:c.878G>A