ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198588
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187876
ClinVar RCV Id:
RCV000167596
RCV000993916
RCV003468813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg183Gln
CA198586
NM_005957.5:c.548G>A