Canonical Allele Identifier: PA2827013205
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Val484Leu
CA394274596
NM_001318831.2:c.1450G>C
CA394274597
NM_001318831.2:c.1450G>T
CA658658370
NM_001318831.2:c.1449_1450delinsTC