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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365767.3:p.[Phe556Val;Thr558_Tyr573delinsHisPheProArgAspSerGlySerThrSerAlaSerAlaGlu;Leu575Val;Val577_Val584delinsAlaProGly]
CA1139771705
ENST00000376583.7:c.1664dup