Canonical Allele Identifier: PA2825957040
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1787136
ClinVar RCV Id: RCV002432769 RCV003475379 RCV003614170
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Lys724Glu
CA200886645
NM_001162426.2:c.2170A>G