Canonical Allele Identifier: PA2825955594
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207608
ClinVar RCV Id: RCV000189810 RCV000225784 RCV001017276 RCV001355439
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Pro315Leu
CA027020
NM_001162427.2:c.944C>T