ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825947412
Gene: SPG11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034192
ClinVar Variation:
41291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Arg815Met
CA344318
NM_001160227.2:c.2444G>T