Canonical Allele Identifier: PA2828061063
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207637
ClinVar RCV Id: RCV000570020 RCV000727040 RCV001323564
ClinVar Variation Id: 643313
ClinVar RCV Id: RCV000796986 RCV002440647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gly878Arg
CA035493
NM_001362177.1:c.2632G>A
CA035511
NM_001362177.1:c.2632G>C