ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249659
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
996033
ClinVar RCV Id:
RCV001290317
RCV002499515
RCV003462851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Ile194Met
CA595667
NM_001330358.2:c.582C>G