Canonical Allele Identifier: PA2825955828
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237699
ClinVar RCV Id: RCV000407254 RCV000726384 RCV001081666 RCV001010703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Asp375Tyr
CA027960
NM_001162427.2:c.1123G>T