Canonical Allele Identifier: PA2827000530
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Leu199Pro
CA394312705
NM_001318827.2:c.596T>C
CA1139664329
NM_001318827.2:c.596_597delinsCT