Canonical Allele Identifier: PA2828092313
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467940
ClinVar RCV Id: RCV000536678 RCV001755846 RCV001015392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg799Cys
CA394277095
NM_001363528.2:c.2395C>T