Canonical Allele Identifier: PA2573184868
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502040
ClinVar RCV Id: RCV002010873 RCV002337126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Leu116Ser
CA375374345
NM_001162426.2:c.347T>C