Canonical Allele Identifier: PA2825435664
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318313
ClinVar RCV Id: RCV000298128 RCV000461333 RCV000765263 RCV001012444 RCV003482249
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Pro541Arg
CA031797
NM_001077183.3:c.1622C>G