Canonical Allele Identifier: PA2825919244
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207637
ClinVar RCV Id: RCV000570020 RCV000727040 RCV001323564
ClinVar Variation Id: 643313
ClinVar RCV Id: RCV000796986 RCV002440647
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Gly998Arg
CA035493
NM_001162426.2:c.2992G>A
CA035511
NM_001162426.2:c.2992G>C