Canonical Allele Identifier: PA2828060069
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Lys466Arg
CA005376
NM_001362177.1:c.1397A>G
CA3060570603
NM_001362177.1:c.1395_1397delinsCAG