Canonical Allele Identifier: PA2828413131
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467994
ClinVar RCV Id: RCV000525625 RCV004024048
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1023Leu
CA044723
NM_001370404.1:c.3067G>C