Canonical Allele Identifier: PA2828415430
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039113
ClinVar RCV Id: RCV001342520 RCV003238861
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1672Val
CA394312611
NM_001370404.1:c.5015C>T