Canonical Allele Identifier: PA2825919273
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411246
ClinVar RCV Id: RCV000468231 RCV000567330 RCV003139664 RCV004001900
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.His1006Tyr
CA035635
NM_001162426.2:c.3016C>T