Canonical Allele Identifier: PA2828059409
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411287
ClinVar RCV Id: RCV000461709 RCV000781950 RCV001019502 RCV001696878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu199del
CA5301770
NM_001362177.1:c.594_596del