Canonical Allele Identifier: PA2828059403
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287541
ClinVar RCV Id: RCV000366220 RCV001085318 RCV002446526 RCV003995780
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Arg195Gln
CA039900
NM_001362177.1:c.584G>A