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Canonical Allele Identifier: Get Identifier
Gene: SPG11 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000445278.2:p.[Val483_Thr485delinsAspArg;Asn487_Gly488delinsTrpThr;Leu491_Glu500delinsAspPheValTrpPheAspSerArgArgVal;Leu502_Val514delinsLysGlnThrHisAspProTrpLysCysGlnHisCys]
CA2573320301
ENST00000535302.6:c.1448_1452del