Canonical Allele Identifier: PA319282
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_000359.1:p.Glu258Lys
CA038893
NM_000368.5:c.772G>A