Canonical Allele Identifier: PA2828059371
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721544
ClinVar RCV Id: RCV002300505
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Cys185Phe
CA375368755
NM_001362177.1:c.554G>T