Canonical Allele Identifier: PA2825948706
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 241599
ClinVar RCV Id: RCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Lys2306Arg
CA7533839
NM_001160227.2:c.6917A>G