Canonical Allele Identifier: PA2828060222
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486569
ClinVar RCV Id: RCV000566852 RCV000808127 RCV001770526 RCV004001136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr522Ala
CA375362637
NM_001362177.1:c.1564A>G