Canonical Allele Identifier: PA645413349
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425467
ClinVar RCV Id: RCV000488377 RCV001089212 RCV002431423 RCV004003419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg721His
CA031606
NM_000368.5:c.2162G>A