Canonical Allele Identifier: PA2827009495
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238046
ClinVar RCV Id: RCV001082242 RCV000443899 RCV001022342
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1336His
CA050956
NM_001318829.2:c.4007G>A