Canonical Allele Identifier: PA645413546
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411222
ClinVar RCV Id: RCV000470360 RCV002307508 RCV003168847 RCV004001892
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ala1070Val
CA16612440
NM_000368.5:c.3209C>T