Canonical Allele Identifier: PA2825955167
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486585
ClinVar RCV Id: RCV000574390 RCV000762584 RCV000692073
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro180Leu
CA375371402
NM_001162427.2:c.539C>T