Canonical Allele Identifier: PA2828417261
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp439Glu
CA394322307
NM_001370405.1:c.1317C>A
CA394322310
NM_001370405.1:c.1317C>G