Canonical Allele Identifier: PA2828417633
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207720
ClinVar RCV Id: RCV000189986 RCV001083566 RCV002256101 RCV003996885
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser554Leu
CA032083
NM_001370405.1:c.1661C>T