Canonical Allele Identifier: PA2828061130
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466116
ClinVar RCV Id: RCV000531464 RCV003352915
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro902Leu
CA375367614
NM_001362177.1:c.2705C>T