Canonical Allele Identifier: PA2828092918
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49241
ClinVar RCV Id: RCV000042500 RCV000201071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg989Pro
CA018497
NM_001363528.2:c.2966G>C