Canonical Allele Identifier: PA2825956965
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231294
ClinVar RCV Id: RCV004525365

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Glu680Asp
CA375360639
NM_001162427.2:c.2040A>T
CA375360642
NM_001162427.2:c.2040A>C