Canonical Allele Identifier: PA915987295
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388596
ClinVar RCV Id: RCV000444035 RCV001088285 RCV000564089 RCV004000499
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro56Leu
CA029375
NM_001162427.2:c.167C>T