Canonical Allele Identifier: PA658680713
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467902
ClinVar RCV Id: RCV000532879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln613His
CA394273020
NM_000548.5:c.1839G>C
CA394273021
NM_000548.5:c.1839G>T