Canonical Allele Identifier: PA916023491
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207715
ClinVar RCV Id: RCV000189980 RCV000549657 RCV003380512 RCV003996883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val472Met
CA319441
NM_001318832.2:c.1414G>A