Canonical Allele Identifier: PA2829976395
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230946
ClinVar RCV Id: RCV000215219 RCV000458155 RCV001119143 RCV003153501
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Val789Ile
CA038777
NM_021055.3:c.2365G>A