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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492937.1:p.[Phe335_Trp350delinsSerCysSerGlyArgThrArgProLeuProCysGlyLeuSerGly;Lys352_Glu357delinsGluSerCysMetArgArg;Ser360_Ile364delinsArgProAlaProSerSer]
CA174515
ENST00000641820.1:c.1004del