ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677944
Gene: MTHFD1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005947.3:p.Ser49Phe
NM_005956.4:c.146C>T