Canonical Allele Identifier: PA2825957119
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411208
ClinVar RCV Id: RCV000456582 RCV000568606 RCV001167710 RCV001538625 RCV004001888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Leu724Phe
CA16612447
NM_001162427.2:c.2170C>T