Canonical Allele Identifier: PA2829971591
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135378
ClinVar RCV Id: RCV000122219 RCV000810100
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Val199Leu
CA022614
NM_021055.3:c.595G>C