Canonical Allele Identifier: PA2825956486
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534412
ClinVar RCV Id: RCV000641965 RCV002397230 RCV003126889 RCV004003952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Pro590Ser
CA375363652
NM_001162426.2:c.1768C>T