Canonical Allele Identifier: PA2827017236
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405992
ClinVar RCV Id: RCV000472885 RCV000565481 RCV001584139 RCV004000689
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg256Cys
CA056249
NM_001318832.2:c.766C>T