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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365770.1:p.[Phe621_Trp636delinsSerCysSerGlyArgThrArgProLeuProCysGlyLeuSerGly;Lys638_Glu643delinsGluSerCysMetArgArg;Ser646_Ile650delinsArgProAlaProSerSer]
CA174515
ENST00000376585.6:c.1862del