Canonical Allele Identifier: PA645413194
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411267
ClinVar RCV Id: RCV000457363 RCV000568537 RCV002489078 RCV004001905
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gln413Arg
CA16612643
NM_000368.5:c.1238A>G