ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043252
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg83Cys
CA16616853
NM_001362177.1:c.247C>T