Canonical Allele Identifier: PA2827020790
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asp1649Glu
CA394312327
NM_001318832.2:c.4947C>A
CA394312331
NM_001318832.2:c.4947C>G