Canonical Allele Identifier: PA2828059397
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134646
ClinVar RCV Id: RCV003045049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr193Arg
CA375368709
NM_001362177.1:c.578C>G