Canonical Allele Identifier: PA2828060731
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059231
ClinVar RCV Id: RCV001368469 RCV004037044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asn738Ser
CA375370037
NM_001362177.1:c.2213A>G