Canonical Allele Identifier: PA2825187171
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1480Phe
CA394302311
NM_000548.5:c.4440A>C
CA394302317
NM_000548.5:c.4440A>T