ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204398
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208196
ClinVar RCV Id:
RCV000190392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Pro66Leu
CA204396
NM_005957.5:c.197C>T