ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408228
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235890
ClinVar RCV Id:
RCV000224979
RCV000498920
RCV000706352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Leu2300Pro
CA10581479
NM_025137.4:c.6899T>C