Canonical Allele Identifier: PA2827011925
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49140
ClinVar RCV Id: RCV000042395 RCV000413741 RCV001065226
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu162Pro
CA013704
NM_001318831.2:c.485T>C