Canonical Allele Identifier: PA645433768
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238031
ClinVar RCV Id: RCV000325835 RCV000567501 RCV000726912 RCV001079391 RCV004532850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1307Lys
CA049623
NM_000548.5:c.3919G>A