Canonical Allele Identifier: PA2828415549
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49961
ClinVar RCV Id: RCV000043228 RCV003511996
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1699Pro
CA022224
NM_001370404.1:c.5096G>C