Canonical Allele Identifier: PA2825955802
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534433
ClinVar RCV Id: RCV000641994 RCV001766381 RCV002257896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Pro418Arg
CA200893788
NM_001162426.2:c.1253C>G