Canonical Allele Identifier: PA2825955387
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Gln250His
CA039389
NM_001162427.2:c.750G>C
CA375369013
NM_001162427.2:c.750G>T