Canonical Allele Identifier: PA645413143
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411210
ClinVar RCV Id: RCV000458416 RCV000565985 RCV000610190 RCV004001889
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg288Cys
CA039240
NM_000368.5:c.862C>T