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Canonical Allele Identifier: Get Identifier
Gene: SPG11 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506948.1:p.[Glu1798_Leu1811delinsAlaValProHisHisProAlaHisSerTrpLysLysSerGly;Arg1813del;Gln1815_Pro1820del;Phe1822_Arg1824delinsAla;Ser1827_Thr1828delinsPhe;Gly1830_Glu1831delinsThrAsp;Leu1832_Ser1833insAsn]
CA618005995
ENST00000684676.1:c.5393_5406del