Canonical Allele Identifier: PA2828413661
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1733615
ClinVar RCV Id: RCV002452497
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1174His
CA394291998
NM_001370404.1:c.3521C>A