Canonical Allele Identifier: PA319314
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207639
ClinVar RCV Id: RCV000189858 RCV000557141
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser1029Ile
CA319312
NM_000368.5:c.3086G>T