Canonical Allele Identifier: PA658659843
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466113
ClinVar RCV Id: RCV000525879 RCV002258952 RCV002506340 RCV003983115 RCV003999216 RCV004525968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gly1016Asp
CA375367719
NM_000368.5:c.3047G>A