Canonical Allele Identifier: PA262228
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48861
ClinVar RCV Id: RCV000042112 RCV000841758 RCV001056632 RCV002255265
ClinVar Variation Id: 1492044
ClinVar RCV Id: RCV001989095
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Asp658Glu
CA005685
NM_000368.5:c.1974C>G
CA375362316
NM_000368.5:c.1974C>A