ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825948295
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466545
ClinVar RCV Id:
RCV000558908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Ser1919Leu
CA392221414
NM_001160227.2:c.5756C>T