Canonical Allele Identifier: PA214874
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48752
ClinVar RCV Id: RCV000041999 RCV000055012 RCV000422201 RCV001010542 RCV000988278 RCV001165673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr417Ile
CA004523
NM_000368.5:c.1250C>T