Canonical Allele Identifier: PA2825917627
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411267
ClinVar RCV Id: RCV000457363 RCV000568537 RCV002489078 RCV004001905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Gln412Arg
CA16612643
NM_001162426.2:c.1235A>G