Canonical Allele Identifier: PA2825957447
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195563
ClinVar RCV Id: RCV000176157 RCV000571983 RCV001088675 RCV003995681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Arg834Gln
CA006799
NM_001162427.2:c.2501G>A