Canonical Allele Identifier: PA2828059304
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41699
ClinVar RCV Id: RCV000034612 RCV001080486 RCV001017939
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg163His
CA008318
NM_001362177.1:c.488G>A