Canonical Allele Identifier: PA2828059384
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015369
ClinVar RCV Id: RCV001314219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro190Leu
CA375368726
NM_001362177.1:c.569C>T