ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579904372
Gene: MTHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Leu437Phe
CA338477968
NM_005957.5:c.1309C>T