Canonical Allele Identifier: PA2827013053
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Met449Ile
CA035244
NM_001318831.2:c.1347G>A
CA394273547
NM_001318831.2:c.1347G>C
CA394273549
NM_001318831.2:c.1347G>T