Canonical Allele Identifier: PA915987524
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207640
ClinVar RCV Id: RCV000189859 RCV001080753 RCV001018741 RCV001818461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ser991Ile
CA035967
NM_001162427.2:c.2972G>T