Canonical Allele Identifier: PA2825440340
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Val684Leu
CA394274596
NM_001077183.3:c.2050G>C
CA394274597
NM_001077183.3:c.2050G>T
CA658658370
NM_001077183.3:c.2049_2050delinsTC