Canonical Allele Identifier: PA2825919585
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64745
ClinVar RCV Id: RCV000054927 RCV001020306 RCV001084718 RCV000831184 RCV003398644
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Asp1145Tyr
CA007378
NM_001162426.2:c.3433G>T