Canonical Allele Identifier: PA2825954833
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49067

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Val200Ile
CA007868
NM_001162426.2:c.598G>A