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Canonical Allele Identifier: Get Identifier
Gene: SPTAN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000361816.4:p.[His1851_Lys1853delinsLeuGluArgAla;Leu1855_Ala1860delinsAlaAlaGlySerCysProGlySer;Arg1862Ala;Gln1864_Arg1865delinsArgVal;Glu1867_Glu1868delinsGlyIle;Leu1870_Gln1873delinsAlaValCysSer;Phe1875_Glu1881delinsCysGlyArg]
CA2582342662
ENST00000372731.8:c.5552_5553del