Canonical Allele Identifier: PA2825948178
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1915574
ClinVar RCV Id: RCV002601586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Thr1777Ser
CA392222781
NM_001160227.2:c.5330C>G
CA392222783
NM_001160227.2:c.5329A>T