Canonical Allele Identifier: PA262290
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48952
ClinVar RCV Id: RCV000042203 RCV000642006 RCV003298084 RCV002483037
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ile807Thr
CA006415
NM_000368.5:c.2420T>C