Canonical Allele Identifier: PA2825955767
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534444
ClinVar RCV Id: RCV000642010 RCV001771876 RCV002406392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr416Lys
CA375366761
NM_001162426.2:c.1247C>A