Canonical Allele Identifier: PA2827015020
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486660
ClinVar RCV Id: RCV000563553 RCV000983892 RCV003392417 RCV004001165
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Val1109Ile
CA050315
NM_001318831.2:c.3325G>A