ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827306290
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001984100
ClinVar Variation:
1493081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Leu459_Leu466dup