Canonical Allele Identifier: PA2828059414
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061284
ClinVar RCV Id: RCV002942604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asn200Lys
CA375368665
NM_001362177.1:c.600T>G
CA375368666
NM_001362177.1:c.600T>A