Canonical Allele Identifier: PA108004
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64947
ClinVar RCV Id: RCV000055150 RCV001853088 RCV002371894
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro1315Ser
CA019722
NM_000548.5:c.3943C>T