Canonical Allele Identifier: PA2828061371
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534453
ClinVar RCV Id: RCV000642019 RCV001020300 RCV004003961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro1024Leu
CA037070
NM_001362177.1:c.3071C>T