Canonical Allele Identifier: PA2827006246
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486620
ClinVar RCV Id: RCV000575507 RCV000686831 RCV001115886 RCV001538849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro183Leu
CA056163
NM_001318829.2:c.548C>T