Canonical Allele Identifier: PA2828059537
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411260
ClinVar RCV Id: RCV000475917 RCV001017361 RCV003401488 RCV004001903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.His250Gln
CA027069
NM_001362177.1:c.750C>A
CA375367436
NM_001362177.1:c.750C>G