ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028001
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187882
ClinVar RCV Id:
RCV000167602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Gly296Val
CA198604
NM_001330358.2:c.887G>T