ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573202153
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1406226
ClinVar RCV Id:
RCV001935375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Ile293Asn
CA338480586
NM_001330358.2:c.878T>A