ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027997
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001894913
RCV002468946
RCV002506924
ClinVar Variation:
1369489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Ile266Val
CA595581
NM_001330358.2:c.796A>G