Canonical Allele Identifier: PA191063
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185109

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg689Cys
CA005878
NM_000368.5:c.2065C>T