ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027998
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Thr268Met
CA595578
NM_001330358.2:c.803C>T