ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580330262
Gene: MTHFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2243940
ClinVar RCV Id:
RCV002742793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005947.3:p.Asn54Ser
CA389967603
NM_005956.4:c.161A>G