ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825957403
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1355303
ClinVar RCV Id:
RCV001866850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr823Ile
CA375369832
NM_001162427.2:c.2468C>T