Canonical Allele Identifier: PA915987165
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411236
ClinVar RCV Id: RCV000571184 RCV001089381 RCV000756827 RCV004001897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Met18Ile
CA16612657
NM_001162427.2:c.54G>C
CA375375362
NM_001162427.2:c.54G>T
CA375375363
NM_001162427.2:c.54G>A