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Canonical Allele Identifier: Get Identifier
Gene: SPTAN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362243.1:p.[His1836_Lys1838delinsLeuGluArgAla;Leu1840_Ala1845delinsAlaAlaGlySerCysProGlySer;Arg1847Ala;Gln1849_Arg1850delinsArgVal;Glu1852_Glu1853delinsGlyIle;Leu1855_Gln1858delinsAlaValCysSer;Phe1860_Glu1866delinsCysGlyArg]
CA2582342662
NM_001375314.2:c.5507_5508del