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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000493098.1:p.[Phe515Val;Thr517_Tyr532delinsHisPheProArgAspSerGlySerThrSerAlaSerAlaGlu;Leu534Val;Val536_Val543delinsAlaProGly]
CA1139771705
ENST00000641407.1:c.1541dup