Canonical Allele Identifier: PA915986987
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207606
ClinVar RCV Id: RCV000473657 RCV000575230 RCV001705059 RCV003996850
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Met351Val
CA319232
NM_001162426.2:c.1051A>G