Canonical Allele Identifier: PA1139689482
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_001155898.1:p.Leu320del
CA5301770
NM_001162426.2:c.957_959del