Canonical Allele Identifier: PA916022834
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467994
ClinVar RCV Id: RCV000525625 RCV004024048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val987Leu
CA044723
NM_001318827.2:c.2959G>C