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Canonical Allele Identifier: Get Identifier
Gene: SPTAN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000515766.1:p.[His1677_Lys1679delinsLeuGluArgAla;Leu1681_Ala1686delinsAlaAlaGlySerCysProGlySer;Arg1688Ala;Gln1690_Arg1691delinsArgVal;Glu1693_Glu1694delinsGlyIle;Leu1696_Gln1699delinsAlaValCysSer;Phe1701_Glu1707delinsCysGlyArg]
CA2582342662
ENST00000704204.1:c.5030_5031del