Canonical Allele Identifier: PA915987521
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237716
ClinVar RCV Id: RCV000229859 RCV001589171 RCV002321855 RCV003390983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Ser991Asn
CA10582622
NM_001162427.2:c.2972G>A