Canonical Allele Identifier: PA2828420979
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49486
ClinVar RCV Id: RCV000042746 RCV001232925
ClinVar Variation Id: 65278
ClinVar RCV Id: RCV000055499 RCV004537245
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Gln1511His
CA020854
NM_001370405.1:c.4533G>C
CA020857
NM_001370405.1:c.4533G>T