Canonical Allele Identifier: PA2828059885
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207633
ClinVar RCV Id: RCV000189848 RCV001012122 RCV001078761 RCV003401036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg396Gln
CA029018
NM_001362177.1:c.1187G>A