Canonical Allele Identifier: PA915986693
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_001155898.1:p.Pro231Leu
CA375371402
NM_001162426.2:c.692C>T