Canonical Allele Identifier: PA2828093139
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467999
ClinVar RCV Id: RCV000544493 RCV002316560 RCV003999287
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1055Arg
CA045581
NM_001363528.2:c.3164C>G