ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825918611
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001370144
ClinVar Variation:
1060682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Glu756Gln
CA375359829
NM_001162426.2:c.2266G>C