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Canonical Allele Identifier: Get Identifier
Gene: SPTAN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000361824.3:p.[His1856_Lys1858delinsLeuGluArgAla;Leu1860_Ala1865delinsAlaAlaGlySerCysProGlySer;Arg1867Ala;Gln1869_Arg1870delinsArgVal;Glu1872_Glu1873delinsGlyIle;Leu1875_Gln1878delinsAlaValCysSer;Phe1880_Glu1886delinsCysGlyArg]
CA2582342662
ENST00000372739.5:c.5567_5568del