Canonical Allele Identifier: PA319254
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207617
ClinVar RCV Id: RCV000189822 RCV000819696 RCV001017516 RCV003488444
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Lys976Glu
CA319252
NM_000368.5:c.2926A>G