Canonical Allele Identifier: PA2828060396
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692395
ClinVar RCV Id: RCV002258532

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Phe586Ser
CA375361009
NM_001362177.1:c.1757T>C