Canonical Allele Identifier: PA2827011812
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535974
ClinVar RCV Id: RCV000644222 RCV001017006 RCV004533366 RCV004004017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Val139Ile
CA276776626
NM_001318831.2:c.415G>A