Canonical Allele Identifier: PA2827011388
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237987
ClinVar RCV Id: RCV000234604 RCV000392158 RCV000574918 RCV001697576 RCV004532844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val717Met
CA038245
NM_001318829.2:c.2149G>A