Canonical Allele Identifier: PA2829984141
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Glu1746Asp
CA394315884
NM_021055.3:c.5238G>C
CA394315894
NM_021055.3:c.5238G>T