Canonical Allele Identifier: PA289172
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135385
ClinVar RCV Id: RCV000122231 RCV000227253 RCV000350281 RCV000490949 RCV004542922 RCV000858996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1336Leu
CA019831
NM_000548.5:c.4007C>T