Canonical Allele Identifier: PA262371
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49061
ClinVar RCV Id: RCV000042314 RCV002266912
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu191Arg
CA007790
NM_000368.5:c.572T>G