Canonical Allele Identifier: PA2827004070
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238040
ClinVar RCV Id: RCV000230897 RCV003165606 RCV003998826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu1248Lys
CA10583329
NM_001318827.2:c.3742G>A