Canonical Allele Identifier: PA2828060061
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466039
ClinVar RCV Id: RCV000559070 RCV002298658 RCV002404458
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro464Ser
CA029621
NM_001362177.1:c.1390C>T