Canonical Allele Identifier: PA645414159
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207621
ClinVar RCV Id: RCV000189826 RCV001852519 RCV002321766 RCV003895230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Leu994Phe
CA319263
NM_001162427.2:c.2980C>T