Canonical Allele Identifier: PA264309
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64790
ClinVar RCV Id: RCV000054977 RCV000474632 RCV000761088 RCV002362687
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu411Ile
CA004502
NM_000368.5:c.1231C>A