Canonical Allele Identifier: PA2825955918
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135363
ClinVar RCV Id: RCV000122188 RCV000475364 RCV000562597 RCV001704038 RCV003153402 RCV003997359
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Ser456Arg
CA004748
NM_001162426.2:c.1366A>C
CA375365986
NM_001162426.2:c.1368T>G
CA375365987
NM_001162426.2:c.1368T>A