Canonical Allele Identifier: PA2825577590
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49960
ClinVar RCV Id: RCV000043227 RCV000201149 RCV000190035 RCV002336163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Arg1720Gln
CA022218
NM_001114382.3:c.5159G>A
CA645572657
NM_001114382.3:c.5159_5160delinsAA