Canonical Allele Identifier: PA658801413
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534447
ClinVar RCV Id: RCV000642013

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu120Ile
CA375374305
NM_000368.5:c.358C>A