Canonical Allele Identifier: PA2828060079
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534412
ClinVar RCV Id: RCV000641965 RCV002397230 RCV003126889 RCV004003952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Pro470Ser
CA375363652
NM_001362177.1:c.1408C>T