Canonical Allele Identifier: PA2828420091
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val1267Leu
CA394297222
NM_001370405.1:c.3799G>C
CA394297228
NM_001370405.1:c.3799G>T