Canonical Allele Identifier: PA2828416386
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 952666
ClinVar RCV Id: RCV001224818 RCV002339603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp169Asn
CA394309180
NM_001370405.1:c.505G>A