Canonical Allele Identifier: PA2827021238
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 825713
ClinVar RCV Id: RCV001024067 RCV001223803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Glu1749Asp
CA394316267
NM_001318832.2:c.5247G>C
CA394316269
NM_001318832.2:c.5247G>T