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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000398908.3:p.[Phe555Val;Thr557_Tyr572delinsHisPheProArgAspSerGlySerThrSerAlaSerAlaGlu;Leu574Val;Val576_Val583delinsAlaProGly]
CA1139771705
ENST00000423400.7:c.1661dup