Canonical Allele Identifier: PA2828060128
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411248
ClinVar RCV Id: RCV000462659 RCV002411506 RCV003476099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.His485Gln
CA029913
NM_001362177.1:c.1455T>A
CA375363314
NM_001362177.1:c.1455T>G