Canonical Allele Identifier: PA2828059372
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466161
ClinVar RCV Id: RCV000572956 RCV000713912 RCV001086734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Cys185Tyr
CA039723
NM_001362177.1:c.554G>A