Canonical Allele Identifier: PA2825955017
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5105
ClinVar RCV Id: RCV000005412 RCV000042306
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Leu129Pro
CA007706
NM_001162427.2:c.386T>C