Canonical Allele Identifier: PA319260
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207619
ClinVar RCV Id: RCV000189824 RCV000803859 RCV002321765
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser1029Asn
CA319258
NM_000368.5:c.3086G>A