Canonical Allele Identifier: PA658805086
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535938
ClinVar RCV Id: RCV000644171 RCV002331190
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro1468Leu
CA051050
NM_000548.5:c.4403C>T