Canonical Allele Identifier: PA2825956453
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Lys586Arg
CA005376
NM_001162426.2:c.1757A>G
CA3060570603
NM_001162426.2:c.1755_1757delinsCAG