Canonical Allele Identifier: PA658805104
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535926
ClinVar RCV Id: RCV000644156 RCV001023500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1692Asp
CA394311952
NM_000548.5:c.5076G>C
CA394311954
NM_000548.5:c.5076G>T