Canonical Allele Identifier: PA2828420283
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535922
ClinVar RCV Id: RCV000644152 RCV003162911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Glu1317Lys
CA050377
NM_001370405.1:c.3949G>A