Canonical Allele Identifier: PA099448
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5105
ClinVar RCV Id: RCV000005412 RCV000042306
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu180Pro
CA007706
NM_000368.5:c.539T>C