ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198570
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167590
ClinVar Variation:
187870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg82Trp
CA198568
NM_005957.5:c.244C>T