Canonical Allele Identifier: PA2825181838
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp616Glu
CA394273044
NM_000548.5:c.1848C>G
CA394273045
NM_000548.5:c.1848C>A