Canonical Allele Identifier: PA916043266
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_001349106.1:p.Phe938Leu
CA036094
NM_001362177.1:c.2814C>G
CA375367134
NM_001362177.1:c.2814C>A
CA375367142
NM_001362177.1:c.2812T>C