Canonical Allele Identifier: PA2825436333
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231749
ClinVar RCV Id: RCV000223317 RCV001216217
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Pro727Leu
CA036994
NM_001077183.3:c.2180C>T