Canonical Allele Identifier: PA2825954301
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466110
ClinVar RCV Id: RCV000548959 RCV002438384 RCV003999214
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Ser1002Phe
CA375367938
NM_001162426.2:c.3005C>T