Canonical Allele Identifier: PA2825955325
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64699
ClinVar RCV Id: RCV000054874 RCV000122199 RCV000465974 RCV000568811 RCV001618239
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Phe234Val
CA008327
NM_001162427.2:c.700T>G