ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956919
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
852697
ClinVar RCV Id:
RCV001057359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg664Gln
CA200886760
NM_001162427.2:c.1991G>A