Canonical Allele Identifier: PA2828060718
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466087
ClinVar RCV Id: RCV000559171
ClinVar Variation Id: 1492799
ClinVar RCV Id: RCV001981241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asn728Lys
CA375370165
NM_001362177.1:c.2184C>G
CA375370167
NM_001362177.1:c.2184C>A