ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827005961
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg66His
CA046888
NM_001318829.2:c.197G>A