ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055511
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
660777
ClinVar RCV Id:
RCV000818048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Gly459Val
CA392235974
NM_025137.4:c.1376G>T