Canonical Allele Identifier: PA891846278
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 570832
ClinVar RCV Id: RCV000691792
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser840Leu
CA375370295
NM_000368.5:c.2519C>T