Canonical Allele Identifier: PA915986700
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534504
ClinVar RCV Id: RCV000642080 RCV001577881 RCV002386066 RCV004003977
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Arg245Gln
CA038606
NM_001162426.2:c.734G>A