Canonical Allele Identifier: PA2828095544
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478025
ClinVar RCV Id: RCV001998504 RCV003303552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala1716Thr
CA394315690
NM_001363528.2:c.5146G>A