Canonical Allele Identifier: PA2825955870
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_001155899.1:p.Leu388Val
CA028025
NM_001162427.2:c.1162C>G