ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027989
Gene: MTHFR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001317287.1:p.Arg224Gln
NM_001330358.2:c.671G>A