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Canonical Allele Identifier: Get Identifier
Gene: SPG11 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507025.1:p.[Glu1750_Leu1763delinsAlaValProHisHisProAlaHisSerTrpLysLysSerGly;Arg1765del;Gln1767_Pro1772del;Phe1774_Arg1776delinsAla;Ser1779_Thr1780delinsPhe;Gly1782_Glu1783delinsThrAsp;Leu1784_Ser1785insAsn]
CA618005995
ENST00000682065.1:c.5249_5262del