ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198660
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187904
ClinVar RCV Id:
RCV000167624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ser603Cys
CA198658
NM_005957.5:c.1808C>G