ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573288949
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1520828
ClinVar RCV Id:
RCV002030961
RCV002346319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Ala1759Ser
CA392222908
NM_025137.4:c.5275G>T