Canonical Allele Identifier: PA2825956185
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377283
ClinVar RCV Id: RCV000437432 RCV000565665 RCV000606212 RCV001085125 RCV001167779 RCV001269495 RCV003950339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ser479Thr
CA029137
NM_001162427.2:c.1436G>C