Canonical Allele Identifier: PA658680777
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val684Leu
CA394274596
NM_000548.5:c.2050G>C
CA394274597
NM_000548.5:c.2050G>T
CA658658370
NM_000548.5:c.2049_2050delinsTC