Canonical Allele Identifier: PA2827015824
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50095
ClinVar RCV Id: RCV000043361 RCV000820413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu1334Pro
CA020960
NM_001318831.2:c.4001T>C