Canonical Allele Identifier: PA2827010236
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49441
ClinVar RCV Id: RCV000042701 RCV000822377 RCV002336160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Lys1574Glu
CA021601
NM_001318829.2:c.4720A>G