Canonical Allele Identifier: PA2825917987
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Asp555Glu
CA375364340
NM_001162426.2:c.1665C>G
CA375364342
NM_001162426.2:c.1665C>A