Canonical Allele Identifier: PA319326
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207644
ClinVar RCV Id: RCV000189863 RCV001019673 RCV001085451 RCV003996859
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg1097Cys
CA036377
NM_000368.5:c.3289C>T