Canonical Allele Identifier: PA2828059299
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466158
ClinVar RCV Id: RCV000525964 RCV003153711
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ala162Val
CA375369249
NM_001362177.1:c.485C>T