Canonical Allele Identifier: PA2828416248
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp129Glu
CA394306884
NM_001370405.1:c.387T>A
CA394306885
NM_001370405.1:c.387T>G