Canonical Allele Identifier: PA2825954799
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49061
ClinVar RCV Id: RCV000042314 RCV002266912
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Leu191Arg
CA007790
NM_001162426.2:c.572T>G