Canonical Allele Identifier: PA2828059713
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466024
ClinVar RCV Id: RCV000560409 RCV000573643 RCV003999188 RCV001574705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu318Val
CA028025
NM_001362177.1:c.952C>G