Canonical Allele Identifier: PA2825156126
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1002179
ClinVar RCV Id: RCV001298562

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg316Leu
CA375368701
NM_000368.5:c.947G>T