Canonical Allele Identifier: PA2828414339
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486632
ClinVar RCV Id: RCV000568648 RCV000644236 RCV001558891 RCV002476253
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gln1375Arg
CA050713
NM_001370404.1:c.4124A>G