Canonical Allele Identifier: PA2828414814
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238056
ClinVar RCV Id: RCV000228875 RCV000477702 RCV000564060 RCV003235153 RCV003998831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1503Ile
CA051988
NM_001370404.1:c.4507G>A