Canonical Allele Identifier: PA2828414697
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387484
ClinVar RCV Id: RCV001088704 RCV000442144 RCV002328973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1473Thr
CA16606959
NM_001370404.1:c.4417C>A