ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579902276
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Glu331Val
CA338480071
NM_005957.5:c.992A>T