Canonical Allele Identifier: PA2828061169
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486561
ClinVar RCV Id: RCV000564806 RCV000642049 RCV003237943 RCV003945355
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly915Glu
CA035815
NM_001362177.1:c.2744G>A