ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028037
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Glu511Val
CA595360
NM_001330358.2:c.1532A>T