Canonical Allele Identifier: PA645433521
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265989
ClinVar RCV Id: RCV000256373 RCV003469206
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1232Phe
CA10588935
NM_000548.5:c.3695C>T