Canonical Allele Identifier: PA658659466
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486571
ClinVar RCV Id: RCV000563590 RCV000641975 RCV000764814 RCV003431131
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala173Val
CA037947
NM_000368.5:c.518C>T