Canonical Allele Identifier: PA2573170522
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1683Leu
CA394311526
NM_000548.5:c.5047G>T
CA394311528
NM_000548.5:c.5047G>C