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Canonical Allele Identifier: Get Identifier
Gene: MTHFR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005263517.1:p.[Leu305_Leu314delinsArgAlaArgSerPheTrpPro;Pro316_Tyr321delinsAlaTrpCysGlnAlaSer;Leu323_Met327delinsSerThrProSerThr;Thr329_Lys334delinsArgTrpLeuProGlnArgCys]
CA2695393934
XM_005263460.5:c.914del