Canonical Allele Identifier: PA2825954611
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411228
ClinVar RCV Id: RCV000460787 RCV001020253 RCV001554985 RCV004001894 RCV003899930
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Pro1139Leu
CA036899
NM_001162426.2:c.3416C>T