Canonical Allele Identifier: PA2827008494
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405973
ClinVar RCV Id: RCV000464873 RCV000569892 RCV001721496 RCV004533160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1004Phe
CA045537
NM_001318829.2:c.3011C>T