Canonical Allele Identifier: PA2828060213
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411257
ClinVar RCV Id: RCV000473830 RCV000491881 RCV001090688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly518Val
CA030103
NM_001362177.1:c.1553G>T