Canonical Allele Identifier: PA2828061354
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411228
ClinVar RCV Id: RCV000460787 RCV001020253 RCV001554985 RCV004001894 RCV003899930
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro1019Leu
CA036899
NM_001362177.1:c.3056C>T