Canonical Allele Identifier: PA2825955381
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207629
ClinVar RCV Id: RCV000189843 RCV000642034 RCV002372157 RCV003996855
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Thr249Ala
CA319286
NM_001162427.2:c.745A>G