Canonical Allele Identifier: PA2828059203
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49094
ClinVar RCV Id: RCV000042348 RCV000724695 RCV000821093
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg125Lys
CA008124
NM_001362177.1:c.374G>A