Canonical Allele Identifier: PA2828413871
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535957
ClinVar RCV Id: RCV000644199 RCV002358833 RCV002493023
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gln1240Arg
CA276750917
NM_001370404.1:c.3719A>G