ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661496
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466539
ClinVar RCV Id:
RCV000553692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Arg1805His
CA7534410
NM_025137.4:c.5414G>A