Canonical Allele Identifier: PA2825955161
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642944
ClinVar RCV Id: RCV000796501 RCV004001600 RCV003344053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg177Gln
CA375371452
NM_001162427.2:c.530G>A