Canonical Allele Identifier: PA2828415658
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1006099
ClinVar RCV Id: RCV001303092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.His1725Gln
CA394315387
NM_001370404.1:c.5175C>A
CA394315391
NM_001370404.1:c.5175C>G