Canonical Allele Identifier: PA2829980490
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_066399.2:p.Ser1336Leu
CA019991
NM_021055.3:c.4007C>T