Canonical Allele Identifier: PA2828059712
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2772451
ClinVar RCV Id: RCV003505732
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu317Phe
CA375366119
NM_001362177.1:c.949C>T