ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408119
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284018
ClinVar RCV Id:
RCV000296854
RCV000692595
RCV002321952
RCV002467713
RCV002467714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Ala106Thr
CA7535871
NM_025137.4:c.316G>A