Canonical Allele Identifier: PA2828419327
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1041Glu
CA018744
NM_001370405.1:c.3123C>G
CA394286142
NM_001370405.1:c.3123C>A