Canonical Allele Identifier: PA2828060622
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48952
ClinVar RCV Id: RCV000042203 RCV000642006 RCV003298084 RCV002483037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ile686Thr
CA006415
NM_001362177.1:c.2057T>C