Canonical Allele Identifier: PA2825918514
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820805
ClinVar RCV Id: RCV001014606 RCV001319237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg717Trp
CA375360858
NM_001162426.2:c.2149C>T