Canonical Allele Identifier: PA2825185758
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 943389
ClinVar RCV Id: RCV001213568 RCV004033893
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1221Leu
CA394292082
NM_000548.5:c.3662C>T