This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365775.3:p.[Phe515Val;Thr517_Tyr532delinsHisPheProArgAspSerGlySerThrSerAlaSerAlaGlu;Leu534Val;Val536_Val543delinsAlaProGly]
CA1139771705
ENST00000376590.9:c.1541dup