ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408125
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
316114
ClinVar RCV Id:
RCV000348489
RCV002467754
RCV002467755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Pro194Leu
CA7535791
NM_025137.4:c.581C>T