Canonical Allele Identifier: PA2827008524
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141482
ClinVar RCV Id: RCV000130032 RCV001087672 RCV000836828 RCV003997543
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala1016Val
CA018885
NM_001318829.2:c.3047C>T