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Canonical Allele Identifier: Get Identifier
Gene: SPG11 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507782.1:p.[Glu1731_Leu1744delinsAlaValProHisHisProAlaHisSerTrpLysLysSerGly;Arg1746del;Gln1748_Pro1753del;Phe1755_Arg1757delinsAla;Ser1760_Thr1761delinsPhe;Gly1763_Glu1764delinsThrAsp;Leu1765_Ser1766insAsn]
CA618005995
ENST00000682669.1:c.5192_5205del