Canonical Allele Identifier: PA2828060418
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040962
ClinVar RCV Id: RCV001344700
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg594Gly
CA375360904
NM_001362177.1:c.1780C>G