Canonical Allele Identifier: PA658659818
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466105
ClinVar RCV Id: RCV000534632 RCV002438382 RCV003329299 RCV003999212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Lys977Arg
CA375368448
NM_000368.5:c.2930A>G