Canonical Allele Identifier: PA2827005961
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468016
ClinVar RCV Id: RCV000544848 RCV001020329 RCV003999291
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg66His
CA046888
NM_001318829.2:c.197G>A