Canonical Allele Identifier: PA2828061348
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486587
ClinVar RCV Id: RCV000574531 RCV001205610 RCV000602459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro1017His
CA036822
NM_001362177.1:c.3050C>A