Canonical Allele Identifier: PA2828061042
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237714
ClinVar RCV Id: RCV000226388 RCV000573300 RCV001169544 RCV001536549 RCV003998776
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Glu869Lys
CA035148
NM_001362177.1:c.2605G>A