Canonical Allele Identifier: PA264246
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64704
ClinVar RCV Id: RCV000054879 RCV000456358 RCV000782214 RCV002371892
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val133Ile
CA007561
NM_000368.5:c.397G>A