Canonical Allele Identifier: PA2827011978
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Gln171His
CA028182
NM_001318831.2:c.513G>C
CA394318387
NM_001318831.2:c.513G>T