Canonical Allele Identifier: PA2825954455
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411214
ClinVar RCV Id: RCV000468565 RCV001018981 RCV003153637
ClinVar Variation Id: 658507
ClinVar RCV Id: RCV000815344
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Phe1058Leu
CA036094
NM_001162426.2:c.3174C>G
CA375367134
NM_001162426.2:c.3174C>A
CA375367142
NM_001162426.2:c.3172T>C