Canonical Allele Identifier: PA319290
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207630
ClinVar RCV Id: RCV000189844 RCV001089004 RCV002257480 RCV003895231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg316Trp
CA039888
NM_000368.5:c.946C>T