Canonical Allele Identifier: PA2828415782
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 381472
ClinVar RCV Id: RCV000423075 RCV000531557 RCV000565678 RCV004000340
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1751His
CA055272
NM_001370404.1:c.5252G>A