Canonical Allele Identifier: PA2828093366
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450949
ClinVar RCV Id: RCV000520176 RCV001020414 RCV001085805 RCV004003619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1119Leu
CA047132
NM_001363528.2:c.3356C>T