Canonical Allele Identifier: PA916043270
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49015
ClinVar RCV Id: RCV000042266 RCV000189827 RCV000227692 RCV000563572 RCV001093203 RCV001167647 RCV003915005
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg941Trp
CA007223
NM_001362177.1:c.2821C>T