Canonical Allele Identifier: PA2828413153
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238015
ClinVar RCV Id: RCV000226848 RCV001019293 RCV003480561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1029Met
CA044793
NM_001370404.1:c.3085G>A