Canonical Allele Identifier: PA915986754
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207627
ClinVar RCV Id: RCV000189841 RCV000376049 RCV000641992 RCV002399707
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Glu258Lys
CA038893
NM_001162426.2:c.772G>A