Canonical Allele Identifier: PA2825954361
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_001155898.1:p.Pro1022Leu
CA375367614
NM_001162426.2:c.3065C>T