Canonical Allele Identifier: PA645434883
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_000539.2:p.Val1547Ile
CA051988
NM_000548.5:c.4639G>A