Canonical Allele Identifier: PA2825955243
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207627
ClinVar RCV Id: RCV000189841 RCV000376049 RCV000641992 RCV002399707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Glu207Lys
CA038893
NM_001162427.2:c.619G>A