Canonical Allele Identifier: PA2825948126
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1956042
ClinVar RCV Id: RCV002700538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Met1712Ile
CA392223220
NM_001160227.2:c.5136G>A
CA392223221
NM_001160227.2:c.5136G>C
CA392223222
NM_001160227.2:c.5136G>T