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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317287.1:p.[Ile297Ser;Ile300_His304del;Leu306_Leu312delinsArgAlaThrThrProPheGly;Lys314del;Glu316_Val317del;Gln319_Glu320del;Val324_Asp330del]
CA2574214475
NM_001330358.2:c.888del