ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139739692
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg83His
CA375372466
NM_001362177.1:c.248G>A