Canonical Allele Identifier: PA2828421197
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238066
ClinVar RCV Id: RCV000229416 RCV002315687 RCV003998834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val1575Ile
CA052943
NM_001370405.1:c.4723G>A