Canonical Allele Identifier: PA2827004163
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65358
ClinVar RCV Id: RCV000055582 RCV000575789 RCV000731274 RCV001083321 RCV004537249
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser1276Leu
CA019991
NM_001318827.2:c.3827C>T