Canonical Allele Identifier: PA2827012312
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Asp239Glu
CA394322307
NM_001318831.2:c.717C>A
CA394322310
NM_001318831.2:c.717C>G