Canonical Allele Identifier: PA2825184257
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val982Leu
CA042926
NM_000548.5:c.2944G>T
CA394281467
NM_000548.5:c.2944G>C