Canonical Allele Identifier: PA658659450
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486592

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gln149Glu
CA375373395
NM_000368.5:c.445C>G