Canonical Allele Identifier: PA2825958080
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411284
ClinVar RCV Id: RCV000474187 RCV001020266
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro1091Ala
CA16612438
NM_001162427.2:c.3271C>G