Canonical Allele Identifier: PA189648
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 184670
ClinVar RCV Id: RCV000163960 RCV000241553 RCV000766818 RCV001079421
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val127Ile
CA007499
NM_000368.5:c.379G>A