Canonical Allele Identifier: PA2828412253
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu750Phe
CA037765
NM_001370404.1:c.2248C>T
CA916081771
NM_001370404.1:c.2247_2248delinsAT