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Canonical Allele Identifier: Get Identifier
Gene: SMPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005253132.1:p.[Leu501Phe;Gln502_Val503insIleAspGlyAsnTyrSerGlySerSerHis;Val503_Thr504insValLeuAspHisGlu;Val505_Cys506delinsTyrIleLeuAsnLeu;Lys508delinsGlnAlaAsnIlePro]
CA2740093621
XM_005253075.3:c.1503_1519del