Canonical Allele Identifier: PA2827011169
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467890
ClinVar RCV Id: RCV000552124 RCV002404476 RCV003999256
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val515Ile
CA032290
NM_001318829.2:c.1543G>A