Canonical Allele Identifier: PA2825956946
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372864
ClinVar RCV Id: RCV001874887
ClinVar Variation Id: 3231292
ClinVar RCV Id: RCV004525363

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Val672Leu
CA375360790
NM_001162427.2:c.2014G>C
CA375360792
NM_001162427.2:c.2014G>T