ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829973720
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser540Phe
CA394267686
NM_021055.3:c.1619C>T