Canonical Allele Identifier: PA2825957973
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207644
ClinVar RCV Id: RCV000189863 RCV001019673 RCV001085451 RCV003996859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg1046Cys
CA036377
NM_001162427.2:c.3136C>T