Canonical Allele Identifier: PA2827001566
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486688
ClinVar RCV Id: RCV000572824 RCV001509505 RCV000804218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala515Thr
CA394268001
NM_001318827.2:c.1543G>A