Canonical Allele Identifier: PA2828060380
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2562864
ClinVar RCV Id: RCV003296857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gln580Pro
CA375361050
NM_001362177.1:c.1739A>C