Canonical Allele Identifier: PA2827016914
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Glu125Asp
CA394306402
NM_001318832.2:c.375G>C
CA394306405
NM_001318832.2:c.375G>T