Canonical Allele Identifier: PA2827005353
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49929
ClinVar RCV Id: RCV000043196 RCV000693889
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Pro1606Leu
CA021795
NM_001318827.2:c.4817C>T