Canonical Allele Identifier: PA2825955327
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411277
ClinVar RCV Id: RCV000475554 RCV001018033 RCV001591100 RCV003155192 RCV004001908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro235Arg
CA039224
NM_001162427.2:c.704C>G