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Canonical Allele Identifier: Get Identifier
Gene: SPTLC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.[Lys491_Trp497delinsArgAlaArgThrCysGlySerLeu;Phe499_Ile502delinsGlyLeuLeuProAsnGly;Thr504_Trp506delinsSerMetAspGlnLeu;Gln508_Val513delinsAspHisGluLysAspAlaTyrPhe]
CA2690637384
NM_001281303.2:c.1472_1475del