Canonical Allele Identifier: PA2825948191
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 374112
ClinVar RCV Id: RCV000801301 RCV000414944 RCV001268887 RCV001848737 RCV003483611 RCV003105892 RCV003168606
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Leu1794Pro
CA7534422
NM_001160227.2:c.5381T>C