Canonical Allele Identifier: PA2825917228
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49058
ClinVar RCV Id: RCV000042311 RCV000442086
ClinVar Variation Id: 1679947
ClinVar RCV Id: RCV002236392
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg190Pro
CA007774
NM_001162426.2:c.569G>C
CA2573144299
NM_001162426.2:c.569_570delinsCT