Canonical Allele Identifier: PA2827007361
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49774
ClinVar RCV Id: RCV000043039 RCV000233524 RCV001013448 RCV001703938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg573Gln
CA016094
NM_001318829.2:c.1718G>A