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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365775.3:p.[Phe580_Trp595delinsSerCysSerGlyArgThrArgProLeuProCysGlyLeuSerGly;Lys597_Glu602delinsGluSerCysMetArgArg;Ser605_Ile609delinsArgProAlaProSerSer]
CA174515
ENST00000376590.9:c.1739del