Canonical Allele Identifier: PA2825187136
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2961779
ClinVar RCV Id: RCV003822425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp1478Glu
CA394302263
NM_000548.5:c.4434C>A
CA394302269
NM_000548.5:c.4434C>G