Canonical Allele Identifier: PA2828059410
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693978
ClinVar RCV Id: RCV003505391
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Leu198Phe
CA375368680
NM_001362177.1:c.594G>T
CA375368681
NM_001362177.1:c.594G>C