Canonical Allele Identifier: PA2825182035
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2711441
ClinVar RCV Id: RCV003513095
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Tyr648His
CA394273393
NM_000548.5:c.1942T>C