Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825947678

Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 406532

ClinVar RCV Id: RCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467815 RCV002467814 RCV003401464

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Ser1142Cys	CA7534986 NM_001160227.2:c.3425C>G