Canonical Allele Identifier: PA916043301
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195728
ClinVar RCV Id: RCV000176367 RCV001852173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Ser995Asn
CA007333
NM_001362177.1:c.2984G>A