Canonical Allele Identifier: PA319237
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207607
ClinVar RCV Id: RCV000189809 RCV000228527 RCV002399706 RCV003996851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val352Ile
CA319235
NM_000368.5:c.1054G>A