Canonical Allele Identifier: PA658659469
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466147
ClinVar RCV Id: RCV000546386 RCV001023799
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val175Ala
CA375372890
NM_000368.5:c.524T>C