Canonical Allele Identifier: PA2828060337
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185109
ClinVar RCV Id: RCV000164473 RCV000439211 RCV001086626
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg568Cys
CA005878
NM_001362177.1:c.1702C>T