ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198597
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187879
ClinVar RCV Id:
RCV000167599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ile225Leu
CA198595
NM_005957.5:c.673A>C