Canonical Allele Identifier: PA915987257
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41688
ClinVar RCV Id: RCV000034600 RCV000054854 RCV001010401 RCV001086659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Leu41Ile
CA004496
NM_001162427.2:c.121C>A