Canonical Allele Identifier: PA2828095241
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49930
ClinVar RCV Id: RCV000043197 RCV000129852 RCV000254730 RCV000459221 RCV000763367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1647His
CA021840
NM_001363528.2:c.4940G>A