Canonical Allele Identifier: PA2825437889
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 381049
ClinVar RCV Id: RCV000435216 RCV001080300 RCV002257673
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Thr1216Met
CA048383
NM_001077183.3:c.3647C>T