ClinGen Allele Registry
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Canonical Allele Identifier:
PA123308
Gene: MTHFD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014602
RCV000880050
RCV002054438
RCV002247337
ClinVar Variation:
13632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005947.3:p.Arg293His
CA123307
NM_005956.4:c.878G>A