Canonical Allele Identifier: PA645433728
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380401
ClinVar RCV Id: RCV000441786 RCV000469602 RCV000567292 RCV001354866
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala1273Val
CA048770
NM_000548.5:c.3818C>T