ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408219
Gene: SPG11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000863585
RCV002365371
RCV003332160
ClinVar Variation:
316081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Leu2095Ser
CA7534186
NM_025137.4:c.6284T>C