Canonical Allele Identifier: PA262242
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48880
ClinVar RCV Id: RCV000042131 RCV002415489
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gly681Ser
CA005830
NM_000368.5:c.2041G>A