ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828156067
Gene: MTHFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351766.1:p.Ser49Phe
CA7225850
NM_001364837.1:c.146C>T