Canonical Allele Identifier: PA2825947715
Gene: SPG11 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Asp1186Glu
CA7534902
NM_001160227.2:c.3558C>G
CA270093527
NM_001160227.2:c.3558C>A