Canonical Allele Identifier: PA645413490
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_000359.1:p.His1007Tyr
CA035635
NM_000368.5:c.3019C>T